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Genetic Screening

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Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 4))

Abstract

Genetic screening may have several different connotations. In a literal sense it probably means “sorting genes.” Since the direct analysis of genes, however desirable, is still not possible, genetic screening usually refers to testing relatively large numbers of individuals for gene products or resulting metabolites with the aim of identifying disorders due to mutant genes. However, even here the subject is far from being clear. Purists, for instance, may wish to number among the genetic disorders only those that have been definitely shown to follow one of the Mendelian patterns of inheritance. Those less fastidious would probably add the so-called multifactorial disorders (e.g., diabetes mellitus, gout, or hypertension), which seem to result from combinations that include both genetics and the environment.96 Furthermore, screening may be of any order of magnitude, ranging from testing only selected individuals to testing all individuals regardless of age or clinical state.

Supported in part by an MCH-MR grant from Maternal and Child Health Services, U.S. Department of Health, Education, and Welfare and by grant NB-05096 from the National Institutes of Health.

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Bibliography

  1. Acosta, P. B., and Centerwall, W. R., Phenylketonuria: dietary management, J. Amer. Diet. Assoc. 36:206 (1960).

    Google Scholar 

  2. Adriaenssens, K., Vanheule, R., and VanBelle, M., A new simple screening method for detecting pathological aminoacidemias with collection of blood on paper, Clin. Chim. Acta 15:362 (1967).

    CAS  Google Scholar 

  3. Allan, J. D., and Brown, J. K., Maternal phenylketonuria and foetal brain damage. An attempt at prevention by dietary control, in “Some Recent Advances in Inborn Errors of Metabolism” (K. S. Holt and V. P. Coffey, eds.), pp. 14–35, E. & S. Livingstone, Edinburgh (1968).

    Google Scholar 

  4. Allan, J. D., Cusworth, D. C., Dent, C. E., and Wilson, V. K., A disease, probably hereditary, characterized by severe mental deficiency and a constant gross abnormality of amino and metabolism, Lancet 1:182 (1958).

    CAS  PubMed  Google Scholar 

  5. Ambrose, J. A., Evaluation studies resulting in the standardization of the bacterial inhibition assay for blood phenylalanine, Health Lab. Sci. 6:199 (1969).

    CAS  Google Scholar 

  6. Ambrose, J. A., Ultramicro automated dialyzer method (autoanalyzer) for the fluorometric determination of phenylalanine, in “Advances in Automated Analysis (Technicon Symposium),” Volume I, pp. 25–52, Mediad, Inc., New York (1970).

    Google Scholar 

  7. Ambrose, J. A., Crimm, A., Burton, J., Paullin, K., and Ross, C., Fluorometric determination of histidine, Clin. Chem. 15:361 (1969).

    CAS  PubMed  Google Scholar 

  8. Ambrose, J. A., Sullivan, P., Ingerson, A., and Brown, R. L., Fluorometric determination of tyrosine, Clin. Chem. 15:611 (1969).

    CAS  PubMed  Google Scholar 

  9. American Academy of Pediatrics, Statement on compulsory testing of newborn infants for hereditary metabolic disorders, Pediatrics 39:623 (1967).

    Google Scholar 

  10. Ampola, M. G., Efron, M. L., Bixby, E. M., and Meshorer, E., Mental deficiency and a new aminoaciduria, Amer. J. Dis. Child. 117:66 (1969).

    CAS  PubMed  Google Scholar 

  11. Ampola, M. G., and Feingold, M., Personal communication.

    Google Scholar 

  12. Ando, T., Klingberg, W. G., Ward, A. N., Rasmussen, K., and Nyhan, W. L., Isovaleric acidemia presenting with altered metabolism of glycine, Pediat. Res. 5:478 (1971).

    CAS  Google Scholar 

  13. Ando, T., Nyhan, W. L., Gerritsen, T., Gong, L., Heiner, D. C., and Bray, P. F., Metabolism of glycine in the nonketotic form of hyperglycinemia, Pediat. Res. 2:254 (1968).

    CAS  PubMed  Google Scholar 

  14. Applegarth, D. A., Hardwick, D. F., Israels, S., and Ross, P. M., Results of a screening program for aminoacidopathies in British Columbia, Brit. Col. Med. J. 12:129 (1970).

    Google Scholar 

  15. Applegarth, D. A., Hardwick, D. F., Israels, S., and Ross, P. M., Results of a screening program for aminoacidopathies in British Columbia (Abstract), International Congress of Clinical Pathology, Seventh Annual Meeting, Montreal, Canada, July 13–18 (1969).

    Google Scholar 

  16. Applegarth, D. A., Ingram, P., Ross, P. M., and Sturrock, S., Effect of ampicillin therapy on urinary amino acid patterns, New Engl. J. Med. 282:1211 (1970).

    CAS  PubMed  Google Scholar 

  17. Armstrong, M. D., and Binkley, E. L., Jr., Studies on phenylketonuria. V. Observations on a newborn infant with phenylketonuria, Proc. Soc. Exp. Biol. Med. 93:418 (1956).

    CAS  PubMed  Google Scholar 

  18. Armstrong, M. D., Low, N. L., and Bosma, J. F., Studies on phenylketonuria. IX. Further observations on the effect of phenylalanine-restricted diet on patients with phenylketonuria, Amer. J. Clin. Nutr. 5:543 (1957).

    CAS  PubMed  Google Scholar 

  19. Armstrong, M. D., quoted by Jervis, G. A., Phenylpyruvic oligophrenia (phenylketonuria), Assoc. Res. Nerv. Ment. Dis. Proc. 33:259 (1954).

    Google Scholar 

  20. Aronsson, S., Engelson, G., Jagenburg, R., and Palmgren, B., Long-term dietary treatment of tyrosinosis, J. Pediat. 72:620 (1968).

    CAS  PubMed  Google Scholar 

  21. Arthur, L. J. H., and Hulme, J. D., Intelligent, small for dates baby born to oligophrenic Phenylketonuric mother after low phenylalanine diet during pregnancy, Pediatrics 46:235 (1970).

    CAS  PubMed  Google Scholar 

  22. Ashley, C. G., Personal communication.

    Google Scholar 

  23. Avery, M. E., Clow, C. L., Menkes, J. H., Ramos, A., Scriver, C. R., Stern, L., and Wasserman, B. P., Transient tyrosinemia of the newborn: dietary and clinical aspects, Pediatrics 39:378 (1967).

    CAS  PubMed  Google Scholar 

  24. Baker, J. R., Yi-Ming, Ch., Liebeschuetz, H. J., and Sandler, M., A comparison of two blood phenylalanine assay procedures in the diagnosis of phenylketonuria, J. Ment. Def. Res. 8:176 (1964).

    CAS  Google Scholar 

  25. Barber, G. W. and Spaeth, G. L., Pyridoxine therapy in homocystinuria, Lancet 1:337 (1967).

    Google Scholar 

  26. Barbesier, J., Boisse, J., Charpentier, C., Lemonnier, A., and Mozziconacci, P., Le dépistage de masse de la Phénylkétonurie. Rapport d’activité d’un centre de dépistage (Octobre 1967-Decembre 1968), Press. Med. 77:1279 (1969).

    CAS  PubMed  Google Scholar 

  27. Barbesier, J., Boisse, J., Charpentier, C., Lemonnier, A., Mozziconacci, P., and Saydybratm J.-M., Bilan d’activité d’un centre de dépistage de la phénylcétonurie. Analyse des résultats de 500,000 tests, Press. Med. 79:395 (1971).

    CAS  PubMed  Google Scholar 

  28. Baron, D. N., Dent, C. E., Harris, H., Hart, E. W., and Jepson, J. B., Hereditary pellagra-like skin rash with temporary cerebellar ataxia. Constant renal aminoaciduria. And other bizarre biochemical features, Lancet 2:421 (1956).

    Google Scholar 

  29. Bartter, F. C., Lotz, M., Thier, S., Rosenberg, L. E., and Potts, J. T., Jr., Cystinuria. Combined clinical staff conference at the National Institutes of Health, Ann. Int. Med. 62:796 (1965).

    CAS  Google Scholar 

  30. Baumeister, A. A., The effects of dietary control on intelligence in phenylketonuria, Amer. J. Ment. Def. 71:840 (1967).

    CAS  Google Scholar 

  31. Becroft, D. M. O., and Horn, C. R., The Guthrie screening test for phenylketonuria: a report on two years participation in the national programme, New Zealand Med. J. 69:212 (1969).

    CAS  PubMed  Google Scholar 

  32. Benson, J. V., Jr., Cormick, J., and Patterson, J. A., Accelerated chromatography of amino acids associated with phenylketonuria, leucinosis (maple syrup urine disease), and other inborn errors of metabolism, Anal. Biochem. 18:481 (1967).

    CAS  Google Scholar 

  33. Berman, J. L., Sex ratio in phenylketonuria, New Engl. J. Med. 283:491 (1970).

    CAS  PubMed  Google Scholar 

  34. Berman, J. L., Cunningham, G. C., Day, R. W., Ford, R., and Hsia, D. Y.-Y., Causes for high phenylalanine with normal tyrosine in newborn screening programs, Amer. J. Dis. Child. 117:54 (1969).

    CAS  PubMed  Google Scholar 

  35. Berman, J. L. and Ford, R., Intelligence quotients and intelligence loss in patients with phenylketonuria and some variant states, J. Pediat. 77:764 (1970).

    CAS  PubMed  Google Scholar 

  36. Berman, P. W., Waisman, H. A., and Graham, F. K., Intelligence in treated Phenylketonuric children: a developmental study, Child Devel. 37:731 (1966).

    Google Scholar 

  37. Berry, H. K., Amino acid excretion in urine of normal infants and children. Paper chromatographic methods for amino acid analysis, Pediatrics 25:983 (1960).

    CAS  PubMed  Google Scholar 

  38. Berry, H. K., Cystinuria in mentally retarded siblings with atypical osteogenesis imperfecta, Amer. J. Dis. Child. 97:196 (1959).

    CAS  Google Scholar 

  39. Berry, H. K., Procedures for testing urine specimens dried on filter paper. Clin. Chem. 5:603 (1959).

    CAS  PubMed  Google Scholar 

  40. Berry, H. K., Leonard, C., Peters, H., Granger, M., and Chunekamrai, N., Detection of metabolic disorders. Chromatographic procedures and interpretation of results, Clin. Chem. 14:1033 (1968).

    CAS  PubMed  Google Scholar 

  41. Berry, H. K. and Spinanger, J., A paper spot test useful in study of Hurler’s syndrome, J. Lab. Clin. Med. 55:136 (1960).

    CAS  PubMed  Google Scholar 

  42. Berry, H. K., Sutherland, B. S., Umbarger, B., and O’Grady, D., Treatment of phenylketonuria, Amer. J. Dis. Child. 113:2 (1967).

    CAS  PubMed  Google Scholar 

  43. Bessman, S. P., Compulsory PKU testing under fire, Medical World News (Dec. 9, 1966).

    Google Scholar 

  44. Bessman, S. P., Discussion, Conference on Phenylketonuria and Biomedical Legislation, Sponsored by Harvard University Program on Science and Technology, Cambridge, Massachusetts (May 11, 1968).

    Google Scholar 

  45. Bessman, S. P., Legislation and advances in medical knowledge—acceleration or inhibition?, J. Pediat. 69:334 (1966).

    CAS  PubMed  Google Scholar 

  46. Bessman, S. P., PKU laws, a model for the future?, Maryland State Med. J. 15:145 (1966).

    CAS  Google Scholar 

  47. Beutler, E., A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency, Blood 28:553 (1966).

    CAS  PubMed  Google Scholar 

  48. Beutler, E., Glucose-6-phosphate dehydrogenase deficiency, Brit. J. Haemat. 18:117 (1970).

    CAS  PubMed  Google Scholar 

  49. Beutler, E., Glucose-6-phosphate dehydrogenase deficiency, in “The Metabolic Basis of Inherited Disease” (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.), second edition, pp. 1060–1089, McGraw-Hill, New York (1966).

    Google Scholar 

  50. Beutler, E., Personal communication.

    Google Scholar 

  51. Beutler, E., and Baluda, M. C., A simple spot screening test for galactosemia, J. Lab. Clin. Med. 68:137 (1966).

    CAS  PubMed  Google Scholar 

  52. Beutler, E., Baluda, M. C., Sturgeon, P., and Day, R. W., The genetics of galactose-1-phosphate uridyl transferase deficiency, J. Lab. Clin. Med. 68:646 (1966).

    CAS  PubMed  Google Scholar 

  53. Beutler, E., Krill, A., Comings, D., and Trinidad, F., Galactokinase deficiency: an important cause of familial cataracts in children and young adults (Abstract), J. Lab. Clin. Med. 76:1006 (1970).

    Google Scholar 

  54. Bickel, H., A critical assessment of the dietary treatment of phenylketonuria. Experiences with 45 cases over the last 6 years, in “Phenylketonuria and Allied Metabolic Diseases” (J. A. Anderson and K. F. Swaiman, eds.), pp. 99–115, U.S. Department of Health, Education, and Welfare (Children’s Bureau), Washington (1967).

    Google Scholar 

  55. Bickel, H., Die Entwicklung der biochemischen Läsion bei der Lignac-Fanconischen Krankheit, Hebet. Paediat. Acta 10:259 (1955).

    CAS  Google Scholar 

  56. Bickel, H., Feist, D., Muller, H., and Quadbeck, G., Ornithinämie. Eine weitere Aminosäurenstoff Wechselstörung mit Hirnschädigung, Deutsch. Med. Wochensch. 47:2241 (1968).

    Google Scholar 

  57. Bickel, H., Gerrard, J., and Hickmans, E. M., Influence of phenylalanine intake on phenylketonuria, Lancet 2:812 (1953).

    Google Scholar 

  58. Bickel, H., Gerrard, J., and Hickmans, E. M., The influence of phenylalanine intake on the chemistry and behavior of a Phenylketonuric child, Acta Paediat. 43:64 (1954).

    CAS  Google Scholar 

  59. Bickel, H., Hudson, F. P., and Woolf, L. I. (eds.), “Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism: Biochemistry/Genetics/Diagnosis/ Therapy,” Georg Thieme Verlag, Stuttgart (1971).

    Google Scholar 

  60. Bickel, H., and Rüter, E., Personal communication.

    Google Scholar 

  61. Birch, H. G. and Tizard, J., The dietary treatment of phenylketonuria: not proven?, Devel. Med. Child. Neurol. 9:9 (1967).

    CAS  Google Scholar 

  62. Bixby, E. M., Pallatao, L. G., and Pryles, C. V., Evaluation of the Bacillus subtilis inhibition-assay technic as a screening procedure for the detection of phenylketonuria, New Engl. J. Med. 268:648 (1963).

    CAS  PubMed  Google Scholar 

  63. Blake, E. E., Rasberry, G. W., and Long, E. E., The results of PKU screening in the Georgia Public Health Laboratories January 1967-June 1968, J. Med. Assoc. Georgia 58:117 (1969).

    CAS  Google Scholar 

  64. Blanksma, L. A., Personal communication.

    Google Scholar 

  65. Blanksma, L. A., and Breen, M., Diagnosis of sickle cell disease by Microzone electrophoresis system, The Analyzer, p. 11 (Aug. 1966).

    Google Scholar 

  66. Blehová, B., Židlický, A., and Pažontōvá, N., Personal communication.

    Google Scholar 

  67. Blumenfeld, C. M., Wallace, M. J., and Anderson, R., Phenylketonuria—the Guthrie screening test. A method for quantitation, observations on reliability and suggestions for improvement, Calif. Med. 105:429 (1966).

    CAS  PubMed Central  PubMed  Google Scholar 

  68. Bodegård, G., Gentz, J., Lindblad, B., Lindstedt, S., and Zetterström, R., Hereditary tyrosinemia. III. On the differential diagnosis and the lack of effect of early dietary treatment, Acta Paediat. Scand. 58:37 (1969).

    PubMed  Google Scholar 

  69. Bolinder, A. E., Microbiological plate assay methods for free amino acid levels in blood, Anal. Biochem. 27:370 (1969).

    CAS  PubMed  Google Scholar 

  70. Bolinder, A. E., Plate assay methods for amino acids, Acta Pharm. Suecica 7:209 (1970).

    CAS  Google Scholar 

  71. Bolinder, A. E., Purity of amino acids, Anal. Biochem. 35:212 (1970).

    CAS  PubMed  Google Scholar 

  72. Boström, H., and Hambraeus, L., Cystinuria in Sweden. VII. Clinical, histopatho-logical, and medico-social aspects of the disease, Acta Med. Scand. Suppl. 411 (1964).

    Google Scholar 

  73. Bourdillon, J. and Vanderlinde, R. E., An improved screening procedure for blood phenylalanine, Public Health Rep. 81:991 (1966).

    CAS  PubMed Central  PubMed  Google Scholar 

  74. Boyle, J. A., Astrin, K. H., Raivio, K. O., and Seegmiller, J. E., A rapid screening procedure for detection of hypoxanthine-guanine phosphoribosyltransferase deficiency (Abstract), Amer. Ped. Soc.—Soc. Ped. Res., p. 180, Atlantic City (Apr. 29-May 2, 1970).

    Google Scholar 

  75. Božkowa, K., Cabalska, B., Duczýnaslca, N., Grodzka, Z., and Sendecka, E., Evaluation of usefulness of screening programme for early detection of inborn errors of metabolism, in “Proceedings of XIII International Congress of Pediatrics, Vol. I. Perinatology,” pp. 459–464 (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  76. Brand, E., Harris, M. M., and Biloon, S., Cystinuria. The excretion of a cystine complex which decomposes in the urine with the liberation of free cystine, J. Biol. Chem. 86:315 (1930).

    CAS  Google Scholar 

  77. Brandon, G. R., Personal communication.

    Google Scholar 

  78. Brandon, G. R. and Ashley, C. G., Testing for phenylketonuria, J. Pediat. 62:955 (1963).

    Google Scholar 

  79. Bremer, H. J., Marx, D. Nützenadel, W., and Bickel, H., Die Dünnschichtchromatographie der Aminosäuren im Urin, Klin. Wochensch. 48:682 (1970).

    CAS  Google Scholar 

  80. Bremer, H. J., Nützenadel, W., und Bickel, H., Dünnschichtchromatographische Methoden zur Erkennung von Aminoacidurien, Aminoacidämien sowie der Galaktosämie, Monatsh. Kinderheilk. 117:32 (1969).

    CAS  Google Scholar 

  81. Brenton, D. P. and Cusworth, D. C., The response of patients with cystathionine synthase deficiency to pyridoxine, in “Inherited Disorders of Sulfur Metabolism“ (N. A. J. Carson and D. N. Raine, eds.), pp. 264–274, E. & S. Livingstone, Edinburgh (1971).

    Google Scholar 

  82. Brodehl, J., Gellissen, K., and Kowalewski, S., Isolated cystinuria (without lysine-ornithine and argininuria) in a family with hypocalcemic tetany. III. International Congress of Nephrology, Washington (Sept. 1966).

    Google Scholar 

  83. Brooks, P. V. and Rogers, P. J., Low-protein, low-phenylalanine cakes, J. Amer. Diet. Assoc. 54:495 (1969).

    CAS  Google Scholar 

  84. Budd, M. A., Tanaka, K., Holmes, L. B., Efron, M. L., Crawford, J. D., and Issel-bacher, K. J., Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism, New Engl. J. Med. 277:321 (1967).

    CAS  PubMed  Google Scholar 

  85. Buist, N. R. M., Personal communication.

    Google Scholar 

  86. Buist, N. R. M., Campbell, R. A., and Koler, R. D., Hepatic soluble tyrosine transaminase deficiency (Abstract), Excerpta Med. 191:32 (1969).

    Google Scholar 

  87. Burns, J., and Vanderlinde, R. E., False-positive test for branched-chain ketonuria, New Engl. J. Med. 285:753 (1971).

    CAS  PubMed  Google Scholar 

  88. Burns, J., and Vanderlinde, R. E., Personal communication.

    Google Scholar 

  89. Cabalska, B., Duczynska, N., and Wnuk, W., The incidence of phenylketonuria and evaluation of its early treatment, Pol. Med. J. 8:1089 (1969).

    CAS  PubMed  Google Scholar 

  90. Cahalane, S. F., Phenylketonuria. Mass screening of newborns in Ireland, Arch. Dis. Child. 43:141 (1968).

    CAS  PubMed Central  PubMed  Google Scholar 

  91. Calvert, A. F., The screening of Negro infants for aminoacidopathies and glucose-6-phosphate dehydrogenase deficiency (Abstract), American Pediatric Society, Atlantic City (May 2–3, 1969).

    Google Scholar 

  92. Carr, D., Chromosomes and abortion, in “Advances in Human Genetics,” Vol. 2 (H. Harris and K. Hirschhorn, eds.), Plenum Press, New York (1971).

    Google Scholar 

  93. Carson, N. A. J., Disorders of amino acid metabolism: results of screening programmes in Northern Ireland, in “Symposium. Problems of Detection of Metabolic Inborn Errors,” Vol. 3, Hormones, Lipids and Miscellaneous, pp. 428–429, Karger, Basel (1970).

    Google Scholar 

  94. Carson, N. A. J., and Carré, I. J., Treatment of homocystinuria with pyridoxine, Arch. Dis. Child. 44:387 (1969).

    CAS  PubMed Central  PubMed  Google Scholar 

  95. Carson, N. A. J., Cusworth, D. C., Dent, C. E., Field, C. M. B., Neill, D. W., and Westall, R. G., Homocystinuria: a new inborn error of metabolism associated with mental deficiency, Arch. Dis. Child. 38:425 (1963).

    CAS  PubMed Central  PubMed  Google Scholar 

  96. Carson, N. A. J., and Neill, D. W., Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland, Arch. Dis. Child. 37:505 (1962).

    CAS  PubMed Central  PubMed  Google Scholar 

  97. Carson, N. A. J., Scally, B. G., Neill, B. W., and Carré, I. J., Saccharopinuria: a new inborn error of lysine metabolism, Nature 218:679 (1969).

    Google Scholar 

  98. Carter, C. O., Multifactorial genetic disease, Hosp. Prac. pp. 45–59 (May 1970).

    Google Scholar 

  99. Carton, D., DeSchrijver, F., Kint, J., Van Durme, J., and Hooft, C., Argininosuccinic aciduria. Neonatal variant with rapid fatal course, Acta Paediat. Scand. 58:529 (1969).

    Google Scholar 

  100. Castells, S., LaCamera, R. G., Wessel, M. A., and Brandt, I. K., Transient hyper-phenylalaninemia, J. Pediat. 72:530 (1968).

    CAS  PubMed  Google Scholar 

  101. Cerami, A., and Manning, J., Potassium cyanate as an inhibitor of the sickling of erythrocytes in vitro, Proc. Natl. Acad. Sci. 68:1180 (1971).

    CAS  PubMed Central  PubMed  Google Scholar 

  102. Champion, R. H., and Lachmann, P. J., Hereditary angio-oedema treated with E-aminocaproic acid, Brit. J. Derm. 81:763 (1969).

    CAS  PubMed  Google Scholar 

  103. Charpentier, C., Personal communication.

    Google Scholar 

  104. Childs, B., Sir Archibald Garrod’s conception of chemical individuality: a modern appreciation, New Engl. J. Med. 282:71 (1970).

    CAS  PubMed  Google Scholar 

  105. Childs, B., and Der Kaloustian, V. M., Genetic heterogeneity, New Engl. J. Med. 279:1205 (1968).

    CAS  PubMed  Google Scholar 

  106. Childs, B., Nyhan, W. L., Borden, M., Bard, L., and Cooke, R. E., Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I., Pediatrics 27:522 (1961).

    CAS  PubMed  Google Scholar 

  107. Clark, P. T., and Rice, J. D., Jr., The use of filter paper PKU test specimen cards in the automated determination of blood phenylalanine concentration, Amer. J. Clin. Path. 46:486 (1966).

    CAS  Google Scholar 

  108. Clayton, B. E., and Lilly, P., Personal communication.

    Google Scholar 

  109. Clow, C., Scriver, C. R., and Davies, E., Results of mass screening for hyperamino-acidemias in the newborn infant, Amer. J. Dis. Child. 117:48 (1969).

    CAS  PubMed  Google Scholar 

  110. Coates, S., Norman, A. P., and Woolf, L. I., Phenylketonuria with normal intelligence and Gower’s muscular dystrophy, Arch. Dis. Child. 32:313 (1957).

    CAS  PubMed Central  PubMed  Google Scholar 

  111. Cohen, B. E., and Szeinberg, A., Phenylketonuria in Israel, in “Proceedings of the First Congress of the International Associations for the Scientific Study of Mental Deficiency,” pp. 794–800, Jackson Pub. Co., London (1968).

    Google Scholar 

  112. Cohen, B. E., and Szeinberg, A., Screening for inborn errors of metabolism in Israel, in “Proceedings of XIII International Congress of Pediatrics, Vol. I. Perinatology,” pp. 428–429, Vienna (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  113. Cohen, B. E., Szeinberg, A., Berman, W., Aviad, Y., Crispin, M., Hirshorn, N., and Golan, R., Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia, Pediatrics 44:655 (1969).

    CAS  PubMed  Google Scholar 

  114. Consden, R., Gordon, A. H., and Martin, A. J. P., Qualitative analysis of proteins: a partition chromatographic method using paper, Biochem. J. 38:224 (1944).

    CAS  PubMed Central  PubMed  Google Scholar 

  115. Consolidated Annual Report on State and Territorial Public Health Laboratories, Fiscal Year 1970, p. 122, U.S. Department of Health, Education, and Welfare, Public Health Service (Health Services and Mental Health Administration, Center for Disease Control, Laboratory Division) (May 1971).

    Google Scholar 

  116. Cooper, J. D., Legislative templates for medical practice: errors of the simplistic model, Medical Tribune (Jan. 19, 1966).

    Google Scholar 

  117. Corner, B. D., Holton, J. B., Norman, R. M., and Williams, P. M., A case of histi-dinemia controlled with a low histidine diet, Pediatrics 41:1074 (1968).

    CAS  PubMed  Google Scholar 

  118. Cotton, R. G. H., Camakaris, J., and Danks, D. M., A screening test for urinary purines and pyrimidines and related compounds using auxotrophic mutants of Escherichia coli K12, Biochem. Genet. 3:326 (1970).

    CAS  Google Scholar 

  119. Crawhall, J. C., and Thompson, C. J., Cystinuria: effect of d-penicillamine on plasma and urinary cystine concentrations, Science 147:1459 (1965).

    CAS  PubMed  Google Scholar 

  120. Culley, W. J., A rapid and simple thin-layer chromatographic method for amino acids in blood, Clin. Chem. 15:902 (1969).

    CAS  PubMed  Google Scholar 

  121. Culley, W. J., Mertz, E. T., Luce, M. W., Calandro, J. M., and Jolty, D. H., Paper chromatographic estimation of phenylalanine and tyrosine using finger-tip blood, Clin. Chem. 8:266 (1962).

    CAS  Google Scholar 

  122. Cusworth, D. C. and Dent, C. E., Renal clearances of amino acids in normal adults and in patients with aminoaciduria, Biochem. J. 74:550 (1960).

    CAS  PubMed Central  PubMed  Google Scholar 

  123. Dancis, J., Hutzler, J., Cox, R. P., and Woody, N. C., Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency, J. Clin. Invest. 48:1447 (1969).

    CAS  Google Scholar 

  124. Dancis, J., Hutzler, J., and Levitz, M., Metabolism of the white blood cells in maple-syrup-urine disease, Biochim. Biophys. Acta 43:342 (1960).

    CAS  PubMed  Google Scholar 

  125. Dancis, J., Hutzler, J., Tada, K., Wada, Y., Morikawa, T., and Arakawa, Ts., Hypervalinemia, a defect in valine transamination, Pediatrics 39:813 (1967).

    CAS  PubMed  Google Scholar 

  126. Davidsohn, I., and Henry, J. B. (eds.), “Todd-Sanford Clinical Diagnosis by Laboratory Methods,” fourteenth edition, pp. 235–236, W. B. Saunders, Philadelphia (1969).

    Google Scholar 

  127. DeJong, B. P., Robertson, W. Van B., and Schafer, I. A., Failure to induce scurvy by ascorbic acid depletion in a patient with Hurler’s syndrome, Pediatrics 42:889 (1968).

    CAS  PubMed  Google Scholar 

  128. Denniston, J. C., Children of mothers with phenylketonuria, J. Pediat. 63:461 (1963).

    CAS  PubMed  Google Scholar 

  129. Dent, C. E., Detection of amino-acids in urine and other fluids, Lancet 2:637 (1946).

    CAS  PubMed  Google Scholar 

  130. Dent, C. E., Discussion of Armstrong, M. D., Relation of biochemical abnormality to development of mental defect in phenylketonuria, in “Etiologic Factors in Mental Retardation,” pp. 32–33, Report of 23rd Ross Pediatric Research Conference, Nov. 8–9, 1956, Ross Laboratories, Columbus (1957).

    Google Scholar 

  131. DesForges, J. F., Treatment of sickle crisis (Editorial), New Engl. J. Med. 284:913 (1971).

    CAS  PubMed  Google Scholar 

  132. DesForges, J. F., Personal communication.

    Google Scholar 

  133. Dobson, J., Koch, R., Williamson, M., Spector, R., Frankenburg, W., O’Flynn, M., Warner, R., and Hudson, F., Cognitive development and dietary therapy in Phenylketonuric children, New Engl. J. Med. 278:1142 (1968).

    CAS  PubMed  Google Scholar 

  134. Dobson, J., and Williamson, M., Provocative observation in the PKU collaborative study, New Engl. J. Med. 282:1104 (1970).

    CAS  PubMed  Google Scholar 

  135. Dobson, J. C., Williamson, M., and Koch, R., Sex ratio in phenylketonuria, New Engl. J. Med. 283:491 (1970).

    CAS  PubMed  Google Scholar 

  136. Donaldson, V. H., and Evans, R. R., A biochemical abnormality in hereditary angioneurotic edema, Amer. J. Med. 35:37 (1963).

    CAS  PubMed  Google Scholar 

  137. Donaldson, Y. H., and Rosen, F. S., Action of complement in hereditary angioneurotic edema: the role of C’1-esterase, J. Clin. Invest. 43:2204 (1964).

    CAS  PubMed Central  PubMed  Google Scholar 

  138. Donnell, G. N., Collado, M., and Koch, R., Growth and development of children with galactosemia, J. Pediat. 58:836 (1961).

    CAS  PubMed  Google Scholar 

  139. Donnell, G. N., Koch, R., and Bergren, W. R., Observations on results of management of galactosemia patients, in “Galactosemia” (D. Y.-Y. Hsia, ed.), pp. 247–275, Charles C. Thomas, Springfield (1969).

    Google Scholar 

  140. Donnell, G. N., and Lann, S. H., Galactosemia: report of four cases, Pediatrics 7:503 (1951).

    CAS  PubMed  Google Scholar 

  141. Efron, M. L., Aminoaciduria, New Engl. J. Med. 272:1058, 1107 (1965).

    CAS  PubMed  Google Scholar 

  142. Efron, M. L., Two-way separation of amino acids and other ninhydrin-reacting substances by high-voltage electrophoresis followed by paper chromatography, Biochem. J. 72:691 (1959).

    CAS  PubMed Central  PubMed  Google Scholar 

  143. Efron, M. L., Bixby, E. M., Palattao, L. G., and Pryles, C. V., Hydroxyprolinemia associated with mental deficiency, New Engl. J. Med. 267:1193 (1962).

    Google Scholar 

  144. Efron, M. L., McPherson, T. C., Shin, V. E., Welsh, C. F., and MacCready, R. A., D-methioninuria due to DL-methionine ingestion. An artefact detected by a mass screening program for errors of amino acid metabolism. Amer. J. Dis. Child. 117: 104 (1969).

    CAS  PubMed  Google Scholar 

  145. Efron, M. L., Young, D., Moser, H. W., and MacCready, R. A., A simple chromatographic screening test for the detection of disorders of amino acid metabolism, New Engl. J. Med. 270:1378 (1964).

    CAS  PubMed  Google Scholar 

  146. Farquhar, J. W., Testing for phenylketonuria, Brit. Med. J. 4:365 (1969).

    CAS  PubMed Central  PubMed  Google Scholar 

  147. Farquhar, J. W., Miller, M. C., and Lindsay, G., Maternal phenylketonuria. Brit. Med. J. 1:46 (1971).

    CAS  PubMed Central  PubMed  Google Scholar 

  148. Feigl, F., “Spot Tests in Organic Analysis,” Elsevier, Amsterdam (1960).

    Google Scholar 

  149. Fisch, R. O., Anthony, B. F., Bauer, H., and Bruhl, H. H., The effect of antibiotics on the results of the Guthrie test given to Phenylketonuric patients, Pediatrics 73:685 (1968).

    CAS  Google Scholar 

  150. Fisch, R. O., Gravem, H. J., and Feinberg, S. B., Growth and bone characteristics of phenylketonurics. Comparative analysis of treated and untreated Phenylketonuric children, Amer. J. Dis. Child. 112:3 (1966).

    CAS  PubMed  Google Scholar 

  151. Fisch, R. O., Torres, F., Gravem, H. J., Greenwood, C. S., and Anderson, J. A., Twelve years of clinical experience with phenylketonuria, Neurology 19:659 (1969).

    CAS  PubMed  Google Scholar 

  152. Fölling, A., Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität, Hoppe Seyler Z. Physiol. Chem. 227:169 (1934).

    Google Scholar 

  153. Fox, J. G., Hall, D. L., Haworth, J. C., Maniar, A., and Sekla, L., Newborn screening for hereditary metabolic disorders in Manitoba, 1965–1970, Canad. Med. Assoc. J. 104:1085 (1971).

    CAS  PubMed Central  PubMed  Google Scholar 

  154. Froesch, E. R., Essential fructosuria and hereditary fructose intolerance, in “The Metabolic Basis of Inherited Disease,” second edition, pp. 124–140 (J. B. Stan-bury, J. B. Wyngaarden, and D. S. Fredrickson, eds.) McGraw-Hill, New York (1966).

    Google Scholar 

  155. Gall, G., Klein, R., and Levy, H. L., Unpublished data.

    Google Scholar 

  156. Garrick, M. D., Dembure, P., and Guthrie, R., Sickle-cell anemia and other hemoglobinopathies. Procedures and strategy for screening employing spots of blood on filter paper as specimens, New Engl. J. Med. 288:1265 (1973).

    CAS  PubMed  Google Scholar 

  157. Garrod, A. E., Inborn errors of metabolism. The Croonian Lectures, Lancet 2:1, 73,142,214 (1908).

    CAS  Google Scholar 

  158. Gentz, J., Lindblad, B., Lindstedt, S., Levy, L., Shasteen, W., and Zetterstrom, R., Dietary treatment in tyrosinemia (tyrosinosis), Amer. J. Dis. Child. 113:31 (1967).

    CAS  PubMed  Google Scholar 

  159. Gerritsen, T., Kaveggia, E., and Waisman, H. A., A new type of idiopathic hyperglycinemia with hypo-oxaluria, Pediatrics 36:882 (1965).

    CAS  PubMed  Google Scholar 

  160. Gerritsen, T., and Waisman, H. A., Hypersarcosinemia: an inborn error of metabolism, New Engl. J. Med. 275:66 (1966).

    CAS  PubMed  Google Scholar 

  161. Ghadimi, H., Birmington, V. I., and Pecora, P., Hyperlysinemia associated with retardation, New Engl. J. Med. 273:723 (1965).

    CAS  PubMed  Google Scholar 

  162. Ghadimi, H., Partington, M. W., and Hunter, A. A., A familial disturbance of histidine metabolism, New Engl. J. Med. 265:221 (1961).

    CAS  PubMed  Google Scholar 

  163. Giorgio, A. J., and Luhby, A. L., A rapid screening test for the detection of congenital methylmalonic aciduria in infancy, Amer. J. Clin. Path., 52:374 (1969).

    Google Scholar 

  164. Gitzelmann, R., Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts, Pediat. Res. 1:14 (1967).

    CAS  Google Scholar 

  165. Gitzelmann, R., Personal communication.

    Google Scholar 

  166. Glass, B., A century of biochemical genetics, Proc. Amer. Phil. Soc. 109:227 (1965).

    CAS  Google Scholar 

  167. Gompertz, D., Storrs, C. N., Bau, D. C. K., Peters, T. J., and Hughes, E. A. L., Localisation of enzymic defect in propionicacidaemia, Lancet 1:1140 (1970).

    CAS  PubMed  Google Scholar 

  168. Goodman, S. I., McIntyre, C. A., and O’Brien, D., Impaired intestinal transport of proline in a patient with familial iminoaciduria, J. Pediat. 71:246 (1967).

    CAS  PubMed  Google Scholar 

  169. Goodman, S. I., Moe, P. G., Hammond, K. B., Mudd, S. H., and Uhlendorf, B. W., Homocystinuria with methylmalonic aciduria: two cases in a sibship, Biochem. Med. 4:500 (1970).

    CAS  PubMed  Google Scholar 

  170. Goodman, S. I., Pollak, S., Miles, B., and O’Brien, D., The treatment of maple syrup urine disease, Pediatrics 75:485 (1969).

    CAS  Google Scholar 

  171. Gordon, A. H., Martin, A. J. P., and Synge, R. L. M., Partition chromatography of free amino-acids and peptides, Biochem. J. 37:Proc. xiii (1943).

    Google Scholar 

  172. Grocott, H. C., Personal communication.

    Google Scholar 

  173. Guthrie, R., Blood screening for phenylketonuria, J. Amer. Med. Assoc. 178:863 (1961).

    Google Scholar 

  174. Guthrie, R., Blood screening for phenylketonuria, Proceedings X International Congress of Pediatrics, Lisbon (Sept. 11, 1962).

    Google Scholar 

  175. Guthrie, R., Personal communication.

    Google Scholar 

  176. Guthrie, R., Routine screening for inborn errors in the newborn: “inhibition assays,” “instant bacteria” and multiple tests, International Copenhagen Congress on the Scientific Study of Mental Retardation, Denmark (Aug. 7–14, 1964).

    Google Scholar 

  177. Guthrie, R., Screening for “inborn errors of metabolism” in the newborn infant— a multiple test program, Birth Def. Orig. Art. Ser. 4:92 (1968).

    Google Scholar 

  178. Guthrie, R., Murphey, W. H., Puleo, J., Strauss, R., Brandon, G. R., Levy, H. L., and MacCready, R. A., Screening newborn infants for phenylketonuria, submitted for publication.

    Google Scholar 

  179. Guthrie, R., and Murphey, W. H., Microbiological screening procedures for detection of inborn errors of metabolism in the newborn infant, in “Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism: Biochemistry/Genetics/ Diagnosis/Therapy” (H. Bickel, F. P. Hudson, and L. L Woolf, eds.), pp. 132–136, Georg Thieme Verlag, Stuttgart (1971).

    Google Scholar 

  180. Guthrie, R., and Susi, A., A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, Pediatrics 32:338 (1963).

    CAS  PubMed  Google Scholar 

  181. Guthrie, R., and Tieckelmann, H., “The inhibition assay,” its use in screening urinary specimens for metabolic differences associated with mental retardation, Proceedings of 1960 London Conference on the Scientific Study of Mental Deficiency, London (1961).

    Google Scholar 

  182. Guthrie, R., and Whitney, S., Phenylketonuria: detection in the newborn infant as a routine hospital procedure, U.S. Department of Health, Education, and Welfare, Welfare Administration, Children’s Bureau, U.S. Government Printing Office, Washington (1964).

    Google Scholar 

  183. Hackney, I. M., Hanley, W. B., Davidson, W., and Linsao, L., Phenylketonuria: mental development, behavior, and termination of low phenylalanine diet, J. Pediat. 72:646 (1968).

    CAS  PubMed  Google Scholar 

  184. Hammond, K. B., and Goodman, S. I., A gas chromatographic procedure for detection of pathological organic aciduria, Clin. Chem. 16:212 (1970).

    CAS  PubMed  Google Scholar 

  185. Hanley, W. B., Linsao, L., Davidson, W., and Moes, C. A. F., Malnutrition with early treatment of phenylketonuria, Pediat. Res. 4:318 (1970).

    CAS  PubMed  Google Scholar 

  186. Hanley, W. B., Partington, M. W., Rathbun, J. C., Amies, C. R., Webb, J. F., and Moore, J. E., The newborn phenylketonuria screening program in Ontario, Canad. Med. Assoc. J. 101:185 (1969).

    Google Scholar 

  187. Hardgrove, M., and Applebaum, I. L., Plasmochin toxicity: analysis of 285 cases, Ann. Int. Med. 25:103 (1946).

    CAS  PubMed  Google Scholar 

  188. Harris, H., Mittwoch, U., Robson, E. B., and Warren, F. L., Phenotypes and genotypes in cystinuria, Ann. Human Genet. 20:57 (1955).

    CAS  Google Scholar 

  189. Harris, H., Penrose, L. S., and Thomas, D. H. H., Cystathioninuria, Ann. Human Genet. 23:442 (1959).

    CAS  Google Scholar 

  190. Harris, H., and Warren, F. L., Quantitative studies on the urinary cystine in patients with cystine stone formation and their relatives, Ann. Eugen. Lond. 18:125 (1953).

    CAS  Google Scholar 

  191. Harris, M. I. (ed.), “Early Diagnosis of Human Genetic Defects. Scientific and Ethical Considerations,” Fogarty International Center Proceedings No. 6, National Institutes of Health, U.S. Government Printing Office, Washington (1971).

    Google Scholar 

  192. Hassan, M. M., Phenylketonuria in a Sudanese family, J. Pediat. 64:282 (1964).

    CAS  PubMed  Google Scholar 

  193. Haworth, J. C., and Barchuk, N. H., A simple chromatographic screening test for the detection of galactosemia in newborn infants, Pediatrics 39:608 (1967).

    CAS  PubMed  Google Scholar 

  194. Hill, A., and Zaleski, W. A., Ampicillin and amino acid chromatography, New Engl. J. Med. 283:490 (1970).

    CAS  PubMed  Google Scholar 

  195. Hill, J. B., Summer, G. K., Pender, M. W., and Roszel, N. O., An automated procedure for blood phenylalanine, Clin. Chem. 11:541 (1965).

    CAS  PubMed  Google Scholar 

  196. Holston, J. L., Levy, H. L., Tomlin, G. A., Atkins, R. J., Patton, T. H., and Hosty, T. S., Tyrosinosis: a patient without liver or renal disease, Pediatrics 48:393 (1971).

    PubMed  Google Scholar 

  197. Holtzman, N. A., Transcript, 7th General Medical Conference, Collaborative Study of Children Treated for Phenylketonuria, pp. 207–229, Los Angeles, (1971).

    Google Scholar 

  198. Horner, F. A., Streamer, C. W., Clader, D. E., Hassell, L. L., Binkley, E. L., Jr., and Dumars, K. W., Jr., Effect of phenylalanine-restricted diet in phenylketonuria. II, A.M.A. J. Dis. Child. 93:615 (1957).

    CAS  PubMed  Google Scholar 

  199. Hsia, D. Y.-Y., A critical evaluation of PKU screening, pp. 101–112, Hospital Practice (April 1971).

    Google Scholar 

  200. Hsia, D. Y.-Y., “Inborn Errors of Metabolism, Part 1. Clinical Aspects,” second edition, pp. 108–113, 253–254, 302–317, Year Book Med. Pub., Chicago (1966).

    Google Scholar 

  201. Hsia, D. Y.-Y., The detection of heterozygous carriers, Med. Clin. North Amer. 53:857 (1969).

    CAS  Google Scholar 

  202. Hsia, D. Y.-Y., Berman, J. L., and Slatis, H. M., Screening newborn infants for phenylketonuria, J. Amer. Med. Assoc. 188:203 (1964).

    CAS  Google Scholar 

  203. Hsia, D. Y.-Y., and Dobson, J., Altered sex ratio among Phenylketonuric infants ascertained by screening the newborn, Lancet 1:905 (1970).

    CAS  PubMed  Google Scholar 

  204. Hsia, D. Y.-Y., Dobson, J., Koch, R., and Woolf, L. I., Sex ratio in phenylketonuria, Lancet 2:96 (1970).

    Google Scholar 

  205. Hsia, D. Y.-Y., Driscoll, K. W., Troll, W., and Knox, W. E., Detection by phenylalanine tolerance tests of heterozygous carriers of phenylketonuria, Nature 178: 1239 (1956).

    CAS  PubMed  Google Scholar 

  206. Hsia, D. Y.-Y., Knox, W. E., Quinn, K. V., and Paine, R. S., A one-year controlled study of the effect of low-phenylalanine diet on phenylketonuria, Pediatrics 21:178 (1958).

    CAS  PubMed  Google Scholar 

  207. Hsia, D. Y.-Y., Litwack, M., O’Flynn, M., and Jakovcic, S., Serum phenylalanine and tyrosine levels in the newborn infant, New Engl. J. Med. 267:1067 (1962).

    CAS  PubMed  Google Scholar 

  208. Hsia, D. Y.-Y., O’Flynn, M. E., and Berman, J. L., Atypical phenylketonuria with borderline or normal intelligence, Amer. J. Dis. Child. 116:143 (1968).

    CAS  PubMed  Google Scholar 

  209. Hsia, D. Y.-Y., and Walker, F. A., Variability in the clinical manifestations of galactosemia, J. Pediat. 59:872 (1961).

    CAS  PubMed  Google Scholar 

  210. Hsia, Y. E., Scully, K. J., and Rosenberg, L. E., Defective propionate carboxylation in ketotic hyperglycinaemia, Lancet 1:757 (1969).

    CAS  PubMed  Google Scholar 

  211. Hudson, F. P., Mordaunt, V. L., and Leahy, I., Evaluation of treatment begun in first three months of life in 184 cases of phenylketonuria, Arch. Dis. Child. 45:5 (1970).

    CAS  PubMed Central  PubMed  Google Scholar 

  212. Hunter, R. L., and Markert, C. L., Histochemical demonstration of enzymes separated by zone electrophoresis in starch gels, Science 125:1294 (1957).

    CAS  PubMed  Google Scholar 

  213. Hurley, R., and Norman, A. P., Costs of screening programmes, Brit. Med. J. 3:165 (1970).

    CAS  PubMed Central  PubMed  Google Scholar 

  214. Hyänek, J., Personal communication.

    Google Scholar 

  215. Iber, F. L., Rosen, H., Levenson, S. M., and Chalmers, T. C., The plasma amino acids in patients with liver failure, J. Lab. Clin. Med. 50:417 (1957).

    CAS  PubMed  Google Scholar 

  216. Irwin, H. R., Nortica, S., and Fleming, W., Blood phenylalanine levels of newborn infants. A routine screening program for the hospital newborn nursery, Calif. Med. 101:331 (1964).

    PubMed Central  Google Scholar 

  217. Jervis, G. A., Genetics of phenylpyruvic oligophrenia (contribution to study of influence of heredity on mental defect), J. Ment. Sci. 85:719 (1939).

    Google Scholar 

  218. Jervis, G. A., Block, R. J., Boiling, D., and Kanze, E., Chemical and metabolic studies on phenylalanine. II. The phenylalanine content of the blood and spinal fluid in phenylpyruvic oligophrenia, J. Biol. Chem. 134:105 (1940).

    CAS  Google Scholar 

  219. Jeune, M., Robert, J.-M., Cotte, J., Collombel, C., Lamit, J., and Tronyez, G., Depistage systematique precoce dans la region lyonnaise de la phenylketonuria par le test de Guthrie, Lyon Med. 218:7 (1967).

    CAS  PubMed  Google Scholar 

  220. Jones, S. R., Binder, R. A., and Donowho, E. M., Jr., Sudden death in sickle-cell trait, New Engl. J. Med. 282:323 (1970).

    CAS  PubMed  Google Scholar 

  221. Justice, P., O’Flynn, M. E., and Hsia, D. Y.-Y., Phenylalanine hydroxylase activity in hyperphenylalaninemia, Lancet 1:928 (1967).

    CAS  PubMed  Google Scholar 

  222. Kaback, M. M., Genetic screening for Tay-Sachs disease, presented at Conference on Genetic Disease Control, Washington, May 2–5, 1970; U.S. Medicine, p. 22 (May 15, 1971).

    Google Scholar 

  223. Kalckar, H. M., Anderson, E. P., and Isselbacher, K. J., Galactosemia, a congenital defect in a nucleotide transferase, Biochim. Biophys. Acta 20:262 (1956).

    CAS  PubMed  Google Scholar 

  224. Kang, E. S., Kaufman, S., and Gerald, P. S., Clinical and biochemical observations of patients with atypical phenylketonuria, Pediatrics 45:83 (1970).

    CAS  PubMed  Google Scholar 

  225. Kang, E. S., Kennedy, J. L., Jr., Gates, L., Burwash, I., and McKinnon, A., Clinical observations in phenylketonuria, Pediatrics 35:932 (1965).

    CAS  PubMed  Google Scholar 

  226. Kang, E. S., Sollee, N. D., and Gerald, P. S., Results of treatment and termination of the diet in phenylketonuria (PKU), Pediatrics 46:881 (1970).

    CAS  PubMed  Google Scholar 

  227. Kekomäki, M. P., Räihä, N. C. R., and Bickel, H., Ornithine-ketoacid aminotransferase in human liver with reference to patients with hyperornithinaemia and familial protein intolerance, Clin. Chim. Acta 23:203 (1969).

    PubMed  Google Scholar 

  228. Kelly, S., Septicemia in galactosemia, J. Amer. Med. Assoc. 216:330 (1971).

    CAS  Google Scholar 

  229. Kelly, S., Korns, R., and Burns, J., Sex ratio in phenylketonuria, Lancet 2:315 (1970).

    Google Scholar 

  230. Kelly, S., and Rose, F., Detection of phenylketonuria carriers, Publ. Health Rep. 84:144 (1969).

    CAS  Google Scholar 

  231. Kennedy, J. L., Wertelecki, W., Gates, L., Sperry, B. P., and Cass, V. M., The early treatment of phenylketonuria, Amer. J. Dis. Child 113:16 (1967).

    PubMed  Google Scholar 

  232. Khan, I. A., Ahmed, A., and Hasan, K. Z., Four cases of phenylketonuria, J. Pakistan Med. Assoc. 18:263 (1968).

    Google Scholar 

  233. Kiil, R., and Rokkones, T., Late manifesting variant of branched-chain ketoaciduria (maple syrup urine disease), Pediatrics 28:918 (1961).

    Google Scholar 

  234. Knox, W. E., An evaluation of the treatment of phenylketonuria with diets low in phenylalanine, Pediatrics 26:1 (1960).

    CAS  PubMed  Google Scholar 

  235. Knox, W. E., Phenylketonuria, in “The Metabolic Basis of Inherited Disease,” (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.) second edition, pp. 258–294, McGraw-Hill, New York (1966).

    Google Scholar 

  236. Knox, W. E., and Kang, E. S., Excess male false-positives among infants with phenylketonuria, Lancet 1:1390 (1970).

    CAS  PubMed  Google Scholar 

  237. Koch, R., Acosta, P., Fishier, K., Schaeffler, G., and Wohlers, A., Clinical observations on phenylketonuria, Amer. J. Dis. Child. 113:6 (1967).

    CAS  PubMed  Google Scholar 

  238. Koch, R., Dobson, J., Hsia, D. Y.-Y., and Woolf, L. I., Conference on sex ratio in phenylketonuria, J. Pediat. 78:157 (1971).

    CAS  PubMed  Google Scholar 

  239. Koch, R., Williamson, M. L., Donnell, G. N., Guthrie, R., Straus, R., Coffelt, R. W., and Fish, C. H., A comparative study of two methods of phenylalanine determination: McCaman-Robins fluorimetric and microbiologic inhibition methods, J. Pediat. 68:905 (1966).

    CAS  PubMed  Google Scholar 

  240. Komrower, G. M., Fowler, B., Griffiths, M. J., and Lambert, A. M., A prospective community survey for aminoacidemias, Proc. Roy. Soc. Med. 61:294 (1968).

    CAS  PubMed Central  PubMed  Google Scholar 

  241. Komrower, G. M., Lambert, A. M., Cusworth, D. C., and Westall, R. G., Dietary treatment of homocystinuria, Arch. Dis. Child. 41:666 (1966).

    CAS  PubMed Central  PubMed  Google Scholar 

  242. Komrower, G. M., and Robins, A. J., Plasma amino acid disturbance in infancy. I. Hypermethioninaemia and transient tyrosinaemia, Arch. Dis. Child. 44:418 (1969).

    CAS  PubMed Central  PubMed  Google Scholar 

  243. Komrower, G. M., Sardharwalla, I. B., and Bridge, C., The Manchester experience of one-dimensional chromatography of plasma, in “Proceedings of XIII International Congress of Pediatrics, Vol. I, Perinatology,” pp. 447–451, Vienna (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  244. Kopito, L., and Shwachman, H., Studies in cystic fibrosis: determination of sweat electrolytes in situ with direct reading electrodes, Pediatrics 43:794 (1969).

    CAS  PubMed  Google Scholar 

  245. Kraffczyk, V. F., Helger, R., und Lang, H., Ein einfacher dünnschiehtchromato-graphischer Suchtest zur Erkennung von Hyperaminacidämien, Z. Klin. Chem. Klin. Biochem. 7:521 (1969).

    CAS  Google Scholar 

  246. Kraffczyk, V. F., Helger, R., and Lang, H., Simplified thin layer chromatography screening test for detection of important hyperaminoacidemias, Clin. China. Acta 31:489 (1971).

    CAS  Google Scholar 

  247. Kugel, R. B., Lundgren, R. G., Jr., and Fedge, A. K., A comparison of two laboratory techniques for early detection of phenylketonuria, Amer. J. Ment. Def. 71:244 (1966).

    CAS  Google Scholar 

  248. Kurtz, D. J., Levy, H. L., Plotkin, W., and Kishimoto, Y., A rapid method for the quantitative analysis of short-chain fatty acids in serum or plasma, Clin. Chim. Acta 34:463 (1971).

    CAS  PubMed  Google Scholar 

  249. Kutter, D., and Humbel, R., Screening for sulfide oxidase deficiency, Clin. Chim. Acta 24:211 (1969).

    CAS  PubMed  Google Scholar 

  250. LaDu, B. N., Alcaptonuria in “The Metabolic Basis of Inherited Disease” (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.), second edition, pp. 303–323, McGraw-Hill, New York (1966).

    Google Scholar 

  251. LaDu, B. N., and Michael, P., An enzymatic spectrophotometric method for the determination of phenylalanine in blood, J. Lab. Clin. Med. 55:491 (1960).

    CAS  Google Scholar 

  252. Laurell, C. B., and Eriksson, S., The electrophoretic α 1-globulin pattern of serum in α 1-antitrypsin deficiency, Scand. J. Clin. Lab. Invest. 15:132 (1963).

    CAS  Google Scholar 

  253. Leaf, A., The syndrome of osteomalacia, renal glycosuria, aminoaciduria, and increased phosphorus clearance (the Fanconi syndrome), in “The Metabolic Basis of Inherited Disease” (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.), second edition, pp. 1205–1220, McGraw-Hill, New York (1966).

    Google Scholar 

  254. Levin, B., Snodgrass, G. J. A. I., Oberholzer, V. G., Bingess, E. A., and Dobbs, R. H., Fructosaemia, Amer. J. Med. 45:826 (1968).

    CAS  PubMed  Google Scholar 

  255. Levy, H. L., Hartnup disease, in “Cellular and Molecular Basis of Neurologic Disease” (E. S. Goldensohn and S. H. Appell, eds.), Lea & Febiger, New York, in press.

    Google Scholar 

  256. Levy, H. L., Large-scale studies in Massachusetts, in “Congenital Mental Retardation” (G. Farrell, ed.), pp. 152–166, University of Texas Press, Austin (1969).

    Google Scholar 

  257. Levy, H. L., Baden, H. P., and Shih, V. E., A simple indirect method for detecting the enzyme defect in histidinemia, J. Pediat. 75:1056 (1969).

    CAS  PubMed  Google Scholar 

  258. Levy, H. L., Baullinger, P. C., and Madigan, P. M., A rapid procedure for the detection of phenylalanine and tyrosine in blood filter paper specimens, Clin. Chim. Acta 31:447 (1971).

    CAS  PubMed  Google Scholar 

  259. Levy, H. L., Feingold, M., and Letsoie, A., Early dietary therapy for hyperlysinemia (Abstract), Amer. Ped. Soc.—Soc. Ped. Res., p. 179, Atlantic City (Apr. 29-May 2, 1970).

    Google Scholar 

  260. Levy, H. L., Karolkewicz, V., Houghton, S. A., and MacCready, R. A., Screening the “normal” population in Massachusetts for phenylketonuria, New Engl. J. Med. 282:1455 (1970).

    CAS  PubMed  Google Scholar 

  261. Levy, H. L., Lott, I. T., and Erickson, A. M., Unpublished data.

    Google Scholar 

  262. Levy, H. L., Madigan, P. M., and Lum, A., Fecal contamination in urine amino acid screening. Artifactual cause of hyperaminoaciduria, Amer. J. Clin. Path. 51: 765 (1969).

    CAS  Google Scholar 

  263. Levy, H. L., Madigan, P. M., and Peneva, P., Evidence for delayed histidine transamination in neonates with histidinemia, Pediatrics 47:128 (1971).

    CAS  PubMed  Google Scholar 

  264. Levy, H. L., Mudd, S. H., Schulman, J. D., Dreyfus, P. M., and Abeles, R. H., A derangement in B12 metabolism associated with homocystinemia, cystathionine-mia, hypomethioninemia and methylmalonic aciduria, Amer. J. Med. 48:390 (1970).

    CAS  PubMed  Google Scholar 

  265. Levy, H. L., and Shih, V. E., Hyperomithinemia and liver disease in infancy (Abstract), New England Pediatric Society, Boston (Dec. 10, 1969).

    Google Scholar 

  266. Levy, H. L. and Shih, V. E., Unpublished data.

    Google Scholar 

  267. Levy, H. L., Shih, V. E., Karolkewicz, V., French, W. A., Carr, J. R., Cass, V., Kennedy, J. L., Jr., and MaeCready, R. A., Persistent mild hyperphenylalaninemia in the untreated state: a prospective study, New Engl. J. Med. 285:424 (1971).

    CAS  PubMed  Google Scholar 

  268. Levy, H. L., Shih, V. E., Karolkewicz, V., and MacCready, R. A., Screening for phenylketonuria, Lancet 2:522 (1970).

    CAS  PubMed  Google Scholar 

  269. Levy, H. L., Shih, V. E., and MacCready, R. A., Inborn errors of metabolism and transport: prenatal and neonatal diagnosis, in “Proceedings XIII International Congress of Pediatrics, Vol. V, Genetics,” pp. 1–18, Vienna (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  270. Levy, H. L., Shih, V. E., and MaeCready, R. A., Screening for homocystinuria in the newborn and mentally retarded population, in “Inherited Disorders of Sulfur Metabolism” (N. A. J. Carson and D. N. Raine, eds.), pp. 235–244, E & S Livingstone, Edinburgh (1971).

    Google Scholar 

  271. Levy, H. L., Shih, V. E., and Madigan, P. M., Histidinemia: a prospective study (Abstract), Society for Pediatric Research, Atlantic City, N.J., April 28-May 1, 1971).

    Google Scholar 

  272. Levy, H. L., Shih, V. E., and Madigan, P. M., Massachusetts metabolic disorders screening program. I. Technics and results of urine screening, Pediatrics 49: 825 (1972).

    CAS  PubMed  Google Scholar 

  273. Levy, H. L., Shih, V. E., and Madigan, P. M., Pitfalls of screening in regard to detection and treatment, in “Proceedings XIII International Congress of Pediatrics, Vol. I, Perinatology,” pp. 437–442, Vienna (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  274. Levy, H. L., Shih, V. E., and Madigan, P. M., Unpublished data.

    Google Scholar 

  275. Levy, H. L., Shih, V. E., Madigan, P. M., Karolkewicz, V., Carr, J. R., Lum, A., Richards, A. A., Crawford, J. D., and MaeCready, R. A., Hypermethioninemia with other hyperaminoacidemias. Studies in infants on high-protein diets, Amer. J. Dis. Child. 117:96 (1969).

    CAS  PubMed  Google Scholar 

  276. Levy, H. L., Shih, V. E., Madigan, P. M., Karolkewicz, V., and MaeCready, R. A., Results of a screening method for free amino acids. I. Whole blood, Clin. Biochem. 1:200 (1968).

    CAS  Google Scholar 

  277. Levy, H. L., Shih, V. E., Madigan, P. M., and MaeCready, R. A., Transient tyro-sinemia in full-term infants, J. Amer. Med. Assoc. 209:249 (1969).

    CAS  Google Scholar 

  278. Lieberman, J., Heterozygous and homozygous α 1-antitrypsin deficiency in patients with pulmonary emphysema, New Engl. J. Med. 281:279 (1969).

    CAS  PubMed  Google Scholar 

  279. Light, I. H., Berry, H. K., and Sutherland, J. M., Aminoaciduria of prematurity; its response to ascorbic acid, Amer. J. Dis. Child. 112:229 (1966).

    CAS  PubMed  Google Scholar 

  280. Littlefield, J. W., Goldstein, S., and Shih, V. E., Somatic cell culture and birth defects, in “Congenital Malformations,” pp. 215–224, Excerpta Med. Intern. Congr. Ser. No. 204 (1969).

    Google Scholar 

  281. Lott, I. T., Erickson, A. M., and Levy, H. L., Dietary treatment of an infant with isovaleric acidemia, Pediatrics 49:616 (1972).

    CAS  PubMed  Google Scholar 

  282. Lott, I. T., Wheelden, J. A., and Levy, H. L., Speech and histidinemia: methodology and evaluation of four cases, Devel. Med. Child. Neurol. 12:596 (1970).

    CAS  Google Scholar 

  283. Lowe, I. P., Robins, E., and Eyerman, G. S., The fluorimetric measurements of glutamic decarboxylase and its distribution in brain, J. Neurochem. 3:8 (1958).

    CAS  PubMed  Google Scholar 

  284. Lubin, B. H., and Oski, F. A., An evaluation of screening procedures for red cell glucose-6-phosphate dehydrogenase deficiency in the newborn infant, J. Pediat. 70:788 (1967).

    CAS  Google Scholar 

  285. Lund, E., Vollmond, K., and Ovlisen, B., Phenylalanine levels in blood and urine in newborn infants, measured by Guthrie test, Acta Path. Microbiol. Scand. 64: 299 (1965).

    CAS  PubMed  Google Scholar 

  286. Lund, E., and Wamberg, E., Phenylketonuria in Denmark. A screening programme, 1962–1968, Danish Med. Bull. 17:13 (1970).

    CAS  PubMed  Google Scholar 

  287. Lund, E., and Wamberg, E., Screening for phenylketonuria and other inborn errors of metabolism in Denmark, 1962–1970, Scand. J. Clin. Lab. Invest. (Suppl.) 118:47 (1971).

    Google Scholar 

  288. Lund, E., and Wamberg, E., Screening program for inborn errors in Denmark, 1962–1970, in “Proceedings XIII International Congress of Pediatrics, Vol. I, Perinatology,” pp. 453–454, Vienna (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  289. Lundgren, R., Personal communication.

    Google Scholar 

  290. Lyon, I. C. T., and Veale, A. M. O., Histidinaemia, Proc. Univ. Otago Med. School 48:68 (1970).

    Google Scholar 

  291. Mabry, C. C., Denniston, J. C., Nelson, T. L., and Son, C. D., Maternal phenylketonuria. A cause of mental retardation in children without the metabolic defect, New Engl. J. Med. 269:1404 (1963).

    CAS  PubMed  Google Scholar 

  292. MacCready, R. A., Phenylketonuria in the newborn, Lancet 2:46 (1963).

    Google Scholar 

  293. MacCready, R. A., “PKU” testing: a reply to Professor Cooper, Medical Tribune (Apr. 6, 1966).

    Google Scholar 

  294. MacCready, R. A., and Hussey, M. G., Newborn phenylketonuria detection program in Massachusetts, Amer. J. Publ. Health. 54:2075 (1964).

    CAS  Google Scholar 

  295. MacCready, R. A., and Levy, H. L., The problem of maternal phenylketonuria, Amer. J. Ob. Gyn. 113:121 (1972).

    CAS  Google Scholar 

  296. MacCready, R. A., Wood, J., Karolkewicz, V., and Brown, W. T., Procedures used in Massachusetts screening program, in “Phenylketonuria Detection in the Newborn Infant as a Routine Hospital Procedure” (R. Guthrie and S. Whitney, eds.), pp. 64–73, U.S. Department of Health, Education, and Welfare (Children’s Bureau), Washington (1964).

    Google Scholar 

  297. MacDonald, W. B., and Fellers, F. X., Penicillamine in the treatment of patients with cystinuria, J. Amer. Med. Assoc. 197:396 (1966).

    CAS  Google Scholar 

  298. Madigan, P. M., Shih, V. E., and Levy, H. L., Unpublished data.

    Google Scholar 

  299. Marks, J. F., Baum, J., Kay, J. L., Taylor, W., and Curry, L., Lesch-Nyhan syndrome treated from the early neonatal period, Pediatrics 42:357 (1968).

    CAS  PubMed  Google Scholar 

  300. Martin, A. J. P., and Synge, R. L. M., A new form of chromatogram employing two liquid phases. 1. A theory of chromatography. 2. Application to the micro-determination of the higher monamino-acids in protein, Biochem. J. 35:1358 (1941).

    CAS  PubMed Central  PubMed  Google Scholar 

  301. Masters, P. L., Personal communication.

    Google Scholar 

  302. Mechanic, G., Efron, M. L., and Shih, V. E., A rapid quantitative estimation of tyrosine and phenylalanine by ion-exchange chromatography, Anal. Biochem. 16: 420 (1966).

    CAS  Google Scholar 

  303. Medes, G., A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine, Biochem. J. 26:917 (1932).

    CAS  PubMed Central  PubMed  Google Scholar 

  304. Medical Research Council Working Party on Phenylketonuria, Present status of different mass screening procedures for phenylketonuria, Brit. Med. J. 4:7 (1968).

    Google Scholar 

  305. Menkes, J. H., and Avery, M. E., The metabolism of phenylalanine and tyrosine in the premature infant, Bull. Johns Hopkins Hosp. 113:301 (1963).

    CAS  PubMed  Google Scholar 

  306. Menkes, J. H., Hurst, P. L., and Craig, J. M., A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance, Pediatrics 14:462 (1954).

    CAS  PubMed  Google Scholar 

  307. Menkes, J. H., Welcher, D. W., Levi, H. S., Dallas, J., and Gretsky, N.E., Relationship of elevated blood tyrosine to the ultimate intellectual performance of premature infants, in “Proceedings XIII International Congress of Pediatrics, Vol. III, Psychiatry and Neurology,” pp. 83–89, Vienna (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  308. Menkes, J. H., Welcher, D. W., Levi, H., Stern, E. R., Dallas, J., and Gretsky, N. E., Effect of elevated blood tyrosine on intellectual development of premature infants (Abstract), Ped. Res. 5:374 (1971).

    Google Scholar 

  309. Mentzer, W. C., Jr., Lubin, B. H., and Nathan, D. G., Screening for sickle-cell trait and G-6-PD deficiency (Editorial), New Engl. J. Med. 282:1155 (1970).

    PubMed  Google Scholar 

  310. Milne, M. D., Crawford, M. A., Girao, C. B., and Loughridge, L. W., The metabolic disorder in Hartnup disease, Quart. J. Med. 29:407 (1960).

    CAS  PubMed  Google Scholar 

  311. Monteleone, J. A., Beutler, E., Monteleone, P. L., Utz, C. L., and Casey, E. C., Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child: studies of a kindred (Abstract), Amer. Ped. Soc.—Soc. Ped. Res., p. 123, Atlantic City (April 29-May 2, 1970).

    Google Scholar 

  312. Morris, M. D., Lewis, B. D., Doolan, P. D., and Harper, H. A., Clinical and biochemical observations on an apparently nonfatal variant of branched-chain keto-aciduria (maple syrup urine disease), Pediatrics 28:918 (1961).

    CAS  PubMed  Google Scholar 

  313. Morrow, G., III, Barness, L. A., Auerbach, V. H., DiGeorge, A. M., Ando, T., and Nyhan, W. L., Observations on the coexistence of methymalonic acidemia and glycinemia, J. Pediat. 74:680 (1969).

    CAS  PubMed  Google Scholar 

  314. Moser, H. W., Efron, M. L., Brown, H., Diamond, R., and Neumann, C. G., Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia, Amer. J. Med. 42:9 (1967).

    CAS  PubMed  Google Scholar 

  315. Motulsky, A. G., and Campbell-Kraut, J. M., Population genetics of glucose-6-phosphate dehydrogenase deficiency of the red cell, in “Proceedings of Conference on Genetic Polymorphisms and Geographic Variations in Disease” (B. S. Blumberg, ed.), pp. 159–180, Greene & Stratton, New York (1961).

    Google Scholar 

  316. Motulsky, A. G., and Stamatoyannopoulos, G., Clinical implications of glucose-6-phosphate dehydrogenase deficiency, Ann. Int. Med. 65:1329 (1966).

    CAS  PubMed  Google Scholar 

  317. Mudd, S. H., Edwards, W. A., Loeb, P. M., Brown, M. S., and Laster, L., Homo-cystinuria due to cystathionine synthase deficiency: the effect of pyridoxine, J. Clin. Invest. 49:1762 (1970).

    CAS  PubMed Central  PubMed  Google Scholar 

  318. Mudd, S. H., Irreverre, F., and Laster, L., Sulfite oxidase deficiency in man: demonstration of the enzymatic defect, Science 156:1599 (1967).

    CAS  PubMed  Google Scholar 

  319. Mudd, S. H., Levy, H. L., and Abeles, R. H., A derangement in the metabolism of B12 leading to homocystinemia, cystathioninemia, and methylmalonic aciduria, Biochem. Biophys. Res. Commun. 35:121 (1969).

    CAS  PubMed  Google Scholar 

  320. Mudd, S. H., Uhlendorf, B. W., Freeman, J. M., Finkelstein, J. D., and Shih, V. E., Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity, Biochem. Biophys. Res. Comm. 46:905 (1972).

    CAS  PubMed  Google Scholar 

  321. Murphey, W. H., Patchen, L., and Guthrie, R., Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens, Biochem. Genet. 6:51 (1972).

    CAS  PubMed  Google Scholar 

  322. Murphey, W. H., Puleo, J., and Guthrie, R., Personal communication.

    Google Scholar 

  323. McCaman, M. W., and Robins, E., Fluorimetric method for the determination of phenylalanine in serum, J. Lab. Clin. Med. 59:885 (1962).

    CAS  Google Scholar 

  324. McInnes, R., Lamm, P., Clow, C. L., and Scriver, C. R., A filter paper sampling method for the uric acid: creatinine ratio in urine. Normal values in the newborn, Pediatrics 49:80 (1972).

    CAS  PubMed  Google Scholar 

  325. McMahan, J. R., and Snell, E. E., The microbiological determination of amino acids. I. Valine and arginine, J. Biol. Chem. 152:83 (1944).

    CAS  Google Scholar 

  326. Nagler, B., “Bibliography on Phenylketonuria,” prepared by Demonstration Project in Phenylketonuria, co-sponsored by the National Institute of Mental Health and the Virginia Department of Mental Hygiene and Hospitals, Colony Virginia, March (1963).

    Google Scholar 

  327. Nadler, H. L., Prenatal diagnosis, in “Advances in Human Genetics,” Vol. 3 (H. Harris and K. Hirschhorn, eds.), p. 1, Plenum Press, New York, (1972).

    Google Scholar 

  328. Nadler, H. L., and Hsia, D. Y.-Y., Utilization of white blood cells for study of clinical genetic disorders, Clin. Biochem. 1:192 (1968).

    CAS  Google Scholar 

  329. Nadler, H. L., Inouye, T., and Hsia, D. Y.-Y., Classical galactosemia: a study of fifty-five cases, in “Galactosemia” (D. Y.-Y. Hsia, ed.), pp. 127–139, Charles C. Thomas, Springfield (1969).

    Google Scholar 

  330. Nalbandian, R. M. (ed.), “Molecular Aspects of Sickle Cell Hemoglobin,” Charles C. Thomas, Springfield (1971).

    Google Scholar 

  331. Nalbandian, R. M., Shultz, G., Lusher, J. M., Sickle cell crisis terminated by intravenous urea in sugar solution—a preliminary report, Amer. J. Med. Sci. 261:309 (1971).

    CAS  PubMed  Google Scholar 

  332. Nelson, K., and Hsia, D.Y.-Y., Screening for galactosemia and glucose-6-phosphate dehydrogenase deficiency in newborn infants, J. Pediat. 71:582 (1967).

    CAS  PubMed  Google Scholar 

  333. Neufeld, E. F., and Fratantoni, J. C., Inborn errors of mucopolysaccharide metabolism, Science 169:141 (1970).

    CAS  PubMed  Google Scholar 

  334. Newman, R. L., and Stern, J., Testing for phenylketonuria, Brit. Med. J. 4:365 (1969).

    CAS  PubMed Central  PubMed  Google Scholar 

  335. Newman, R. L., and Stern, J., Personal communication.

    Google Scholar 

  336. Nichols, S. D., Splenic and pulmonary infarction in a Negro athlete, Rocky Mountain Med. J. 65:49 (1968).

    Google Scholar 

  337. Nyhan, W. L., Treatment of hyperglycinemia, Amer. J. Dis. Child., 113:129 (1967).

    CAS  PubMed  Google Scholar 

  338. Nützenadel, W., und Lutz, P., Elution und dünnschichtchromatographische Auftrennung von Plasma-Aminosäuren aus mit Blut getränkten Filterscheibschen, Clin. Chim. Acta 20:151 (1970).

    Google Scholar 

  339. O’Brien, D., “Rare Inborn Errors of Metabolism in Children with Mental Retardation,” Public Health Service Publication No. 2049, revised 1970, U.S. Government Printing Office, Washington (1970).

    Google Scholar 

  340. O’Brien, J. S., Okada, S., Wan Ho, M., Fillerup, D. L., Veath, M. L., and Adams, K., Ganglioside storage diseases, Fed. Proc. 30:956 (1971).

    PubMed  Google Scholar 

  341. O’Brien, J. S., Okada, S., Chen, A., and Fillerup, D. L., Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay, New Engl. J. Med. 283:15 (1970).

    PubMed  Google Scholar 

  342. O’Flynn, M. E., and Hsia, D. Y.-Y., Some observations on the dietary treatment of phenylketonuria, J. Pediat. 72:260 (1968).

    PubMed  Google Scholar 

  343. O’Flynn, M. E., Tillman, P., and Hsia, D. Y.-Y., Hyperphenylalaninemia without phenylketonuria, Amer. J. Dis. Child. 133:22 (1967).

    Google Scholar 

  344. Okada, S., and O’Brien, J. S., Tay-Sachs disease: generalized absence of a β-D-N-acetylhexosaminidase component, Science 165:698 (1969).

    CAS  PubMed  Google Scholar 

  345. Osler, W., Hereditary angio-neurotic edema, Amer. J. Med. Sci. 95:362 (1888).

    Google Scholar 

  346. Oura, T., Personal communication.

    Google Scholar 

  347. Oyanagi, K., Takagi, M., Kitabatake, M., and Nakao, T., Hartnup disease, Tohoku J. Exp. Med. 91:383 (1967).

    CAS  PubMed  Google Scholar 

  348. Paigen, K., Personal communication.

    Google Scholar 

  349. Paterson, J. C. S., and Sprague, C. C., Observation on the genesis of crises in sickle cell anemia, Ann. Int. Med. 50:1502 (1959).

    CAS  PubMed  Google Scholar 

  350. Partington, M. W., Screening tests and phenylketonuria, Canad. J. Med. Tech. 28:24 (1966).

    CAS  Google Scholar 

  351. Partington, M. W., The early symptoms of phenylketonuria, Pediatrics 27:465 (1961).

    CAS  PubMed  Google Scholar 

  352. Partington, M. W., Scriver, C. R., and Sass-Korstak, A. (eds.), Conference on hereditary tyrosinemia, Canad. Med. Assoc. J. 97:1045 (1967).

    Google Scholar 

  353. Penrose, L. S., Inheritance of phenylpyruvic amentia (phenylketonuria), Lancet 2:192 (1935).

    Google Scholar 

  354. Perry, T. L., Dunn, H. G., Hansen, S., MacDougall, L., and Warrington, P. D., Early diagnosis and treatment of homocystinuria, Pediatrics 37:502 (1966).

    CAS  PubMed  Google Scholar 

  355. Perry, T. L., Hansen, S., and MacDougall, L., Urinary screening tests in the prevention of mental deficiency, Canad. Med. Assoc. J. 95:89 (1966).

    CAS  PubMed Central  PubMed  Google Scholar 

  356. Perry, T. L., Hansen, S., Tischler, B., Bunting, R., and Berry, K., Carnosinemia, New Engl. J. Med. 277 : 1219 (1967).

    CAS  PubMed  Google Scholar 

  357. Perry, T. L., Hansen, S., Tischler, B., and Bunting, R., Determination of heterozygosity for phenylketonuria on the amino acid analyzer. Clin. Chim. Acta 18:51 (1967).

    CAS  PubMed  Google Scholar 

  358. Pitt, D., Testing for phenylketonuria in Australia, Med. J. Austral. 2:112 (1971).

    CAS  PubMed  Google Scholar 

  359. Plöchl, E., Dünnschichtchromatographische Auftrennung von Blutaminosäuren aus mit Blut beschickten Filterpapierplättchen, Clin. Chim. Acta 21:271 (1968).

    PubMed  Google Scholar 

  360. Pollitt, R. J., Jenner, F. A., and Merskey, H., Aspartylglucosaminuria, Lancet 2: 253 (1968).

    CAS  PubMed  Google Scholar 

  361. Population screening by Guthrie test for phenylketonuria in south-east Scotland. Report by the consultant paediatricians and medical officers of health of the S.E. Scotland Hospital region, Brit. Med. J. 1:674 (1968).

    Google Scholar 

  362. Procopis, P. G., and Turner, B., Iminoaciduria: a benign renal tubular defect, J. Pediat. 79:419 (1971).

    CAS  PubMed  Google Scholar 

  363. Puleo, J., Personal communication.

    Google Scholar 

  364. Raine, D. N., Methioninaemia in infancy, in “Inherited Disorders of Sulfur Metabolism” (N. A. J. Carson and D. N. Raine, eds.), pp. 40–49, E. & S. Livingstone, Edinburgh (1971).

    Google Scholar 

  365. Rampini, S., Anders, P. W., Curtins, C. C., and Marthaler, T., Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis, Pediat. Res. 3:287 (1969).

    CAS  PubMed  Google Scholar 

  366. Read, K. S., Allen, R. J., and Haddy, T. B., Phenylketonuria in newborns, Mich. Med. 68:691 (1969).

    CAS  PubMed  Google Scholar 

  367. Recommended Guidelines for PKU Programs for the Newborn, U.S. Department of Health, Education, and Welfare (Public Health Service, Health Services and Mental Health Administration), Washington (1971).

    Google Scholar 

  368. Renuart, A. W., Screening for inborn errors of metabolism associated with mental deficiency or neurologic disorders of both, New Engl. J. Med. 274:384 (1966).

    CAS  PubMed  Google Scholar 

  369. Rosen, F. S., and Austen, K. F., The “neurotic edema” (hereditary angioedema), New Engl. J. Med. 280:1356 (1969).

    CAS  PubMed  Google Scholar 

  370. Rosenberg, L. E., Downing, S., Durant, J. L., and Segal, S., Cystinuria: biochemical evidence for three generically distinct diseases, J. Clin. Invest. 45:365 (1966).

    CAS  PubMed Central  PubMed  Google Scholar 

  371. Rosenberg, L. E., Durant, J. L., and Elsas, L. J. II, Familial iminoglycinuria. An inborn error of renal tubular transport, New Engl. J. Med. 278:1407 (1968).

    CAS  PubMed  Google Scholar 

  372. Rosenblatt, D., and Scriver, C. R., Heterogeneity in genetic control of phenylalanine metabolism in man, Nature 218:677 (1968).

    CAS  PubMed  Google Scholar 

  373. Rothenberg, M. B., and Sills, E. M., Iatrogenesis: the PKU anxiety syndrome, J. Amer. Acad. Child Psychiat. 7:689 (1968).

    CAS  PubMed  Google Scholar 

  374. Rouse, B. M., Phenylalanine deficiency syndrome, J. Pediat. 69:246 (1966).

    CAS  PubMed  Google Scholar 

  375. Sakai, K., and Kitagawa, T., An atypical case of tyrosinosis. I. Clinical and laboratory findings, Jikeikai Med. J. 4:1 (1957).

    CAS  Google Scholar 

  376. Sass, M. D., and Axelrod, D. R., Routine testing for G-6-PD deficiency, New Engl. J. Med. 283:100 (1970).

    CAS  PubMed  Google Scholar 

  377. Saugstad, L. F., Sex ratio in phenylketonuria, Lancet 2:314 (1970).

    CAS  PubMed  Google Scholar 

  378. Scheel, C. and Berry, H. K., Comparison of serum phenylalanine levels with growth in Guthrie’s inhibition assay in newborn infants, J. Pediat. 61:610 (1962).

    CAS  PubMed  Google Scholar 

  379. Schimke, R. N., McKusick, V. A., Huang, T., and Pollack, A. D., Homocystinuria: studies of 20 families with 38 affected members, J. Amer. Med. Assoc. 193:87 (1965).

    Google Scholar 

  380. Schön, R., and Thalhammer, O., Personal communication.

    Google Scholar 

  381. Schulman, J. D., Greene, M. L., Fujimoto, W. Y., and Seegmiller, J. E., Evaluation of adenine therapy for Lesch-Nyhan syndrome (Abstract) Amer. Ped. Soc.—Soc. Ped. Res., p. 51, Atlantic City (Apr. 29-May 2, 1970).

    Google Scholar 

  382. Scott, R. B., Urea therapy in sickle-cell anemia (Editorial), New Engl. J. Med. 285:1025 (1971).

    CAS  PubMed  Google Scholar 

  383. Scriver, C. R., Diagnosis and treatment: interpreting the positive screening test in the newborn infant, Pediatrics 39:764 (1967).

    CAS  PubMed  Google Scholar 

  384. Scriver, C. R., Hereditary aminoaciduria, in “Progress in Medical Genetics” (A. G. Steinberg and A. G. Beam, eds.), Vol. II, p. 83–186, Greene & Stratton, New York (1962).

    Google Scholar 

  385. Scriver, C. R., Mass screening for genetic disease: applications in the community, in “Proceedings XIII International Congress of Pediatrics, Vol. I, Perinatology,” pp. 431–435, Vienna (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  386. Scriver, C. R., The problem of signal-to-noise ratio in screening. Part II of position paper for the panel on genetic screening, presented at Conference on Genetic Disease Control, Washington (May 2–5, 1970).

    Google Scholar 

  387. Scriver, C. R., and Cameron, D., Pseudohypophosphatasia, New Engl. J. Med. 281:604 (1969).

    CAS  PubMed  Google Scholar 

  388. Scriver, C. R., Davies, E., and Cullen, A. M., Application of a simple micromethod to the screening of plasma for a variety of aminoacidopathies, Lancet 2:230 (1964).

    CAS  PubMed  Google Scholar 

  389. Scriver, C. R., Mackenzie, S., Clow, C. L., and Devlin, E., Thiamine-responsive maple-syrup-urine disease, Lancet 1:310 (1971).

    CAS  PubMed  Google Scholar 

  390. Scriver, C. R., Pueschel, S., and Davies, E., Hyper-β-alaninemia associated with β-aminoaciduria and γ-aminobutyric aciduria, somnolence and seizures, New Engl. J. Med. 274:635 (1966).

    CAS  PubMed  Google Scholar 

  391. Scriver, C. R., Whelan, D. T., Clow, C. L., and Dallaire, L., Cystinuria: increased prevalence in patients with mental disease, New Engl. J. Med. 283:783 (1970).

    CAS  PubMed  Google Scholar 

  392. Segal, S., Blair, A., and Roth, H., The metabolism of galactose by patients with congenital galactosemia, Amer. J. Med. 38:63 (1965).

    Google Scholar 

  393. Sharp, H. L., Bridges, R. A., Krivit, W., and Freier, E. F., Cirrhosis associated with alpha-antitrypsin deficiency: a previously unrecognized inherited disorder, J. Lab. Clin. Med. 73:934 (1969).

    CAS  PubMed  Google Scholar 

  394. Sheldon, W., Luder, J., and Webb, B., A familial tubular absorption defect of glucose and amino acids, Arch. Dis. Child. 36:90 (1961).

    CAS  PubMed Central  PubMed  Google Scholar 

  395. Shih, V. E., Early dietary management of an infant with argininosuccinase deficiency, J. Pediat. 80:645 (1972).

    CAS  PubMed  Google Scholar 

  396. Shih, V. E., and Efron, M. L., The urea cycle disorders, in “The Metabolic Basis of Inherited Disease” (J. B. Stanbury, J. B. Wyngaarden, and D. S. Frederickson, eds.), pp. 370–392, third edition, Chapter 17, McGraw-Hill, New York (1972).

    Google Scholar 

  397. Shih, V. E., and Efron, M. L., Pyridoxine-unresponsive homocystinuria. Final diagnosis of MGH case 19471, 1933, New Engl. J. Med. 283:1206 (1970).

    CAS  PubMed  Google Scholar 

  398. Shih, V. E., Efron, M. L., and Mechanic, G., Rapid short column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease, Anal. Biochem. 20:299 (1967).

    CAS  PubMed  Google Scholar 

  399. Shih, V. E., Efron, M. L., and Moser, H. W., Hyperornithinemia, hyperammonemia, and homocitrullinuria, Amer. J. Dis. Child. 117:83 (1969).

    CAS  PubMed  Google Scholar 

  400. Shih, V. E., and Levy, H. L., Cost benefits of neonatal screening, New Engl. J. Med. 285:239 (1971).

    Google Scholar 

  401. Shih, V. E., Levy, H. L., Karolkewicz, V., Houghton, S., Efron, M. L., Isselbacher, K. J., Beutler, E., and MacCready, R. A., Galactosemia screening of newborns in Massachusetts, New Engl. J. Med. 284:753 (1971).

    CAS  PubMed  Google Scholar 

  402. Shih, V. E., Levy, H. L., and Madigan, P. M., Unpublished data.

    Google Scholar 

  403. Shih, V. E., Madigan, P. M., Carr, J., and Levy, H. L., Unpublished data.

    Google Scholar 

  404. Shih, V. E. and Schulman, J. D., N-acetylcysteine-cysteine disulfide excretion in the urine following N-acetylcysteine administration, J. Pediat. 74:129 (1969).

    CAS  PubMed  Google Scholar 

  405. Shwachman, H., Redmond, A., and Khaw, K.-T., Studies in cystic fibrosis: report of 130 patients diagnosed under 3 months of age over a 20-year period, Pediatrics 46:335 (1970).

    CAS  PubMed  Google Scholar 

  406. Sibinga, M. S., Friedman, C. J., Steisel, I. M., and Baker, E. C., The depressing effect of restricting diets on physical growth in PKU (Abstract), Society for Pediatric Research, Atlantic City, N.J. (Apr. 29-May 2, 1970).

    Google Scholar 

  407. Similä, S., and Visakorpi, J. K., Clinical findings in three patients with nonketotic hyperglycinaemia, Ann. Clin. Res. 2:151 (1970).

    PubMed  Google Scholar 

  408. Smith, R., Sugarman, H., Lubin, B., and Oski, F., Urea and sickling, New Engl. J. Med. 285:295 (1971).

    PubMed  Google Scholar 

  409. Snyderman, S. E., Maple syrup urine disease, in “Amino Acid Metabolism and Genetic Variation” (W. L. Nyhan, ed.), pp. 171–183, McGraw-Hill, New York (1967).

    Google Scholar 

  410. Snyderman, S. E., Personal communication.

    Google Scholar 

  411. Snyderman, S. E., Norton, P. M., Roitman, E., and Holt, L. E., Maple syrup urine disease, with particular reference to dietotherapy, Pediatrics 34:454 (1964).

    CAS  PubMed  Google Scholar 

  412. Sommer, A., and Kontras, S. B., Splenomegaly with hypersplenism in sickle cell anemia treated by radiation—case report, Pediatrics 48:457 (1971).

    CAS  PubMed  Google Scholar 

  413. Sotos, J. F., and Boggs, D. E., Disorders of metabolism, in “Genetic Disorders of Man” (R. M. Goodman, ed.), pp. 829–907, Little, Brown & Co., Boston (1970).

    Google Scholar 

  414. Spinella, C. J., Two-dimensional paper chromatographic determination of amino acids in urine, Clin. Chem. 15:1011 (1969).

    CAS  PubMed  Google Scholar 

  415. Stahl, E. (ed.), “Thin-Layer Chromatography,” Academic Press, New York (1965).

    Google Scholar 

  416. “State Laws Pertaining to Phenylketonuria as of November 1970,” U.S. Department of Health, Education, and Welfare, Public Health Service, Health Services and Mental Health Administration (Maternal and Child Health Service), U.S. Government Printing Office, Washington (1971).

    Google Scholar 

  417. Stengink, L. D., Schmitt, J. L., Meyer, P. D., and Kain, P. H., Effect of diets fortified with DL-methionine on urinary and plasma methionine levels in young infants, J. Pediat. 79:648 (1971).

    Google Scholar 

  418. Stephenson, J. B. P., and McBean, M. S., Phenylketonuria: a reassessment of mass infant screening by napkin test, Brit. Med. J. 2:582 (1967).

    Google Scholar 

  419. Stevenson, J. S., and Lindsay, G., Personal communication.

    Google Scholar 

  420. Stern, J., Paper No. 2. Other biochemical abnormalities, in “Biochemical Screening in Relation to Mental Retardation” (D. C. Cusworth, ed.), pp. 9–21, Pergamon Press, Oxford (1971).

    Google Scholar 

  421. Strauss, R., and Pepe, P., Personal communication.

    Google Scholar 

  422. Stuber, A., Simplified chromatographic screening test for the diagnosis of some inborn errors of metabolism, Clin. Chim. Acta 24:221 (1969).

    CAS  PubMed  Google Scholar 

  423. Sunshine, P., Lindenbaum, J. E., Levy, H. L., and Freeman, J. M., Hyperammonemia due to defect in hepatic ornithine transcarbamylase, Pediatrics 50:100 (1972).

    CAS  PubMed  Google Scholar 

  424. Szeinberg, A., Szeinberg, B., and Cohen, B. E., Screening method for detection of specific aminoacidemias, Clin. Chim. Acta 23:93 (1969).

    CAS  PubMed  Google Scholar 

  425. Tada, K., Ito, H., Wada, Y., and Arakawa, T., Congenital tryptophanuria with dwarfism, Tohoku J. Exp. Med. 80:118 (1963).

    CAS  PubMed  Google Scholar 

  426. Tada, K., Morikawa, T., Ando, T., Yoshida, T., and Minagawa, A., Prolinuria: a new renal tubular defect in transport of proline and glycine, Tohoku J. Exp. Med. 87:133 (1965).

    CAS  PubMed  Google Scholar 

  427. Tada, K., Narisawa, K., Yoshida, T., Konno, T., Yokoyama, Y., Nakagawa, H., Tanno, K., Mochizuki, K., Arakawa, Ts., Yoshida, T., and Kikuchi, G., Hyperglycinemia: a defect in glycine cleavage reaction, Tohoku J. Exp. Med. 98:289 (1969).

    CAS  PubMed  Google Scholar 

  428. Talamo, R. C., Levison, H., Lynch, M. J., Herz, A., Hyslop, N. E., Jr., and Bain, H. W., Symptomatic pulmonary emphysema in childhood associated with hereditary α1-antitrypsin and elastase inhibitor deficiency, J. Pediat. 79:20 (1971).

    CAS  PubMed  Google Scholar 

  429. Tancredi, F., Guazzi, G., and Auricchio, S., Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids, J. Pediat. 76:386 (1970).

    CAS  PubMed  Google Scholar 

  430. Thalhammer, O., Austria screening program, in “Proceedings of the XIII International Congress of Pediatrics, Vol. I, Perinatology,” pp. 443–445, Vienna (Aug. 29-Sept. 4, 1971).

    Google Scholar 

  431. Thalhammer, O., Personal communication.

    Google Scholar 

  432. Thalhammer, O., Gitzelmann, R., and Pantlitschko, M., Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn, Pediatrics 42:441 (1968).

    CAS  PubMed  Google Scholar 

  433. Thalhammer, O., Scheibenreiter, S., and Pantlitschko, M., Histidinemia: detection by routine newborn screening and biochemical observations on three unrelated cases, Z. Kinderheilk. 109:279 (1971).

    CAS  PubMed  Google Scholar 

  434. Tengström, B., Automated blood galactose analysis as a screening method for galactosaemia in milk-fed newborns, Scand. J. Clin. Lab. Invest. 23:197 (1969).

    PubMed  Google Scholar 

  435. Terhaggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M., and Colombo, J. P., Argininaemia with arginase deficiency, Lancet 2:748 (1969).

    Google Scholar 

  436. Thiriar, M. J., Thiriar-de Lanckar, C., and Vis, H. L., Résultats obtenus après vingt-quatre mois de dépistage systématique de la phénylcétonurie, Acta Paediat. Belg. 21:463 (1967).

    CAS  PubMed  Google Scholar 

  437. Tomlin, G. A., Atkins, R. J., and Hosty, T. S., Personal communication.

    Google Scholar 

  438. Tourian, A., Goddard, J., and Puck, T. T., Phenylalanine hydroxylase activity in mammalian cells, J. Cell Physiol. 73:159 (1969).

    CAS  PubMed  Google Scholar 

  439. Turner, B., and Brown, D. A., Amino acid excretion in infancy and early childhood. A survey of 200,000 infants, Med. J. Austral. 1:62 (1972).

    CAS  PubMed  Google Scholar 

  440. Turner, B., and Brown, D. A., Aminoacid excretion in infancy and early childhood. A survey of 100,000 infants, Med. J. Austral. 1:11 (1970).

    CAS  PubMed  Google Scholar 

  441. Turner, B., and Brown, D. A., Detection of urinary abnormalities in a well-baby population: results of a survey, Med. J. Austral. 1:560 (1967).

    CAS  PubMed  Google Scholar 

  442. Ulimann, W., Personal communication.

    Google Scholar 

  443. Van Sprang, F. J., and Wadman, S. K., Treatment of a patient with histidinemia, Acta Paediat. Scand. 56:493 (1967).

    PubMed  Google Scholar 

  444. Veale, A. M. O., Personal communication.

    Google Scholar 

  445. Veale, A. M. O., Lyon, I. C. T., and Houston, I. B., Neonatal blood tyrosine elevations, New Zealand Med. J. 74:83 (1971).

    CAS  PubMed  Google Scholar 

  446. Vercaemst, R., Blaton, V., and Peeters, H., Ion-exchange thin-layer chromatography of amino acids, J. Chrom. 43:143 (1969).

    Google Scholar 

  447. Vis, H. L., Thiriar, M., and Casman-Henry, F., Le dépistage systématique de la Phenylketonurie. Quelques réflexions après cinq ans d’activités du Centre de Dépistage de Bruxelles (1965–1970), Acta Paediat. Belg. 24:211 (1970).

    CAS  PubMed  Google Scholar 

  448. Vulovic, D., Hajdukovic, R., and Cupic, V., Personal communication.

    Google Scholar 

  449. Waalkes, T. P., and Udenfriend, S., A fluorometric method for the estimation of tyrosine in plasma and tissues, J. Lab. Clin. Med. 50:733 (1957).

    CAS  PubMed  Google Scholar 

  450. Wada, Y., Tada, K., Minagawa, A., Yoshida, T., Morikawa, T., and Okamura, T., Idiopathic hypervalinemia, Tohoku J. Exp. Med. 81:46 (1963).

    CAS  PubMed  Google Scholar 

  451. Wadman, S. K., Van Sprang, F. J., Maas, J. W., and Ketting, D., An exceptional case of tyrosinosis, J. Ment. Def. Res. 12:269 (1968).

    CAS  Google Scholar 

  452. Wagner, M. G., and Littman, B., Phenylketonuria in the American Indian, Pediatrics 39:108 (1967).

    CAS  PubMed  Google Scholar 

  453. Wallis, L. A., and Engle, R. L., Jr., The adult Fanconi syndrome II. Review of eighteen cases, Amer. J. Med. 22:13 (1957).

    PubMed  Google Scholar 

  454. Wamberg, E., Personal communication.

    Google Scholar 

  455. Watson, R. J., Lichtman, H. C., and Shapiro, H. D., Splenomegaly in sickle cell anemia, Amer. J. Med. 20:196 (1956).

    CAS  PubMed  Google Scholar 

  456. Wen-Yen, W., Chemical diagnosis of phenylketonuria. Report of 8 cases, Chinese Med. J. 83:579 (1964).

    CAS  Google Scholar 

  457. Westall, R. G., Dietary treatment of a child with maple syrup urine disease (branched-chain ketoaciduria), Arch. Dis. Child. 38:485 (1963).

    CAS  PubMed Central  PubMed  Google Scholar 

  458. Westall, R. G., Dietary treatment of maple syrup urine disease, Amer. J. Dis. Child. 113:58 (1967).

    CAS  PubMed  Google Scholar 

  459. Westall, R. G., Treatment of argininosuccinic aciduria, Amer. J. Dis. Child. 113:160 (1967).

    CAS  PubMed  Google Scholar 

  460. Westall, R. G., Danois, J., and Miller, S., Maple syrup urine disease, A.M.A. J. Dis. Child. 94:571 (1957).

    Google Scholar 

  461. Whang, S. J., Kopp, C. M., Whitehouse, J. L., and Knights, E. M., Jr., Screening procedure for the detection of phenylketonuria, Providence Hosp. Southfield Med. Bull. 2:37 (1966).

    CAS  Google Scholar 

  462. Whelan, D. T., and Scriver, C. R., Cystathioninuria and renal iminoglycinuria in a pedigree, New Engl. J. Med. 278:924 (1968).

    CAS  PubMed  Google Scholar 

  463. Whelan, D. T., and Scriver, C. R., Hyperdibasic aminoaciduria: an inherited disorder of amino acid transport, Pediat. Res. 2:252 (1968).

    Google Scholar 

  464. Wilcken, B., and Turner, B., Personal communication.

    Google Scholar 

  465. Williams, R. J., and Kirby, H., Paper chromatography using capillary ascent, Science 107:481 (1948).

    CAS  PubMed  Google Scholar 

  466. Wilson, M. G., Wu, P. Y. K., and Ware, A. G., Sex ratio in hyperphenylalaninemia of newborn infants, J. Pediat. 78:117 (1971).

    CAS  PubMed  Google Scholar 

  467. Wintrobe, M. M., “Clinical Hematology,” sixth edition, pp. 688–710, Lea & Febiger, Philadelphia (1967).

    Google Scholar 

  468. Wiseman, H. J., and Tomlin, G. A., Personal communication.

    Google Scholar 

  469. Wollaston, W. H., On cystic oxide, a new species of urinary calculus, Phil. Trans. Roy. Soc. London 100:223 (1810).

    Google Scholar 

  470. Wong, P. W. K., Lambert, A. M., and Komrower, G. M., Tyrosinemia and tyrosy-luria in infancy, Dev. Med. Child. Neurol. 9:551 (1967).

    CAS  PubMed  Google Scholar 

  471. Woody, N. C., Hyperlysinemia, Amer. J. Dis. Child. 108:543 (1964).

    CAS  PubMed  Google Scholar 

  472. Woody, N. C., Hutzler, J., and Dancis, J., Further studies of hyperlysinemia, Amer. J. Dis. Child. 112:577 (1966).

    CAS  PubMed  Google Scholar 

  473. Woolf, L. I., Large-scale screening for metabolic disease in the newborn in Great Britain, in “Phenylketonuria and Allied Metabolic Disorders” (J. A. Anderson and K. F. Swaiman, eds.), pp. 50–59, U.S. Department of Health, Education, and Welfare (Children’s Bureau), Washington (1967).

    Google Scholar 

  474. Woolf, L. I., Griffiths, R., Moncrieff, A., Coates, S., and Dillistone, F., The dietary treatment of phenylketonuria, Arch. Dis. Child. 33:31 (1958).

    CAS  PubMed Central  PubMed  Google Scholar 

  475. World Health Organization Scientific Group, “Screening for Inborn Errors of Metabolism,” W. H. O. Techn. Rep. Ser. No. 401 (1968).

    Google Scholar 

  476. Yeung, C. Y., Lai, H. C., and Leung, N. K., Fluorescent spot test for screening erythrocyte glucose-6-phosphate dehydrogenase deficiency in newborn babies, J. Pediat. 76:931 (1970).

    CAS  PubMed  Google Scholar 

  477. Yu, J. S., and O’Halloran, M. T., Sex ratio in phenylketonuria, Lancet 1:1174 (1970).

    CAS  PubMed  Google Scholar 

  478. Zumwalt, R. W., Roach, D., and Gehrke, C. W., Gas-liquid chromatography of amino acids in biological substances, J. Chromat. 53:171 (1970).

    CAS  Google Scholar 

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Authors and Affiliations

  1. State Laboratory Institute, Massachusetts Department of Public Health, Boston, Massachusetts, USA

    Harvey L. Levy

  2. Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA

    Harvey L. Levy

  3. Joseph P. Kennedy, Jr. Laboratories and the Neurology Service, Massachusetts General Hospital, Boston, Massachusetts, USA

    Harvey L. Levy

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  1. University College London, London, England

    Harry Harris (Galton Professor of Human Genetics) (Galton Professor of Human Genetics)

  2. Mount Sinai School of Medicine, The City University New York, USA

    Kurt Hirschhorn (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics) (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics)

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Levy, H.L. (1973). Genetic Screening. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 4. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8261-8_1

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