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Neonatal Screening for Inborn Errors of Metabolism

  • Conference proceedings
  • © 1980

Overview

Editors:
  1. Horst Bickel

    1. Universitäts-Kinderklinik, Heidelberg, Germany

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  2. Robert Guthrie

    1. Department of Pediatrics, State University of New York at Buffalo, Childrens Hospital, Buffalo, USA

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  3. Gerhard Hammersen

    1. Universitäts-Kinderklinik, Heidelberg, Germany

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Table of contents (38 papers)

  1. Front Matter

    Pages I-XVII
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  2. Rationale of Neonatal Screening for Inborn Errors of Metabolism

    1. Rationale of Neonatal Screening for Inborn Errors of Metabolism

      • H. Bickel
      Pages 1-6

  3. Screening for Hereditary Metabolic Disorders

    1. Screening for Phenylketonuria

      • A. M. O. Veale
      Pages 7-18

    2. Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)

      • E. W. Naylor
      Pages 19-28

    3. Homocystinuria and Other Methioninemias

      • D. H. H. Pullon
      Pages 29-44

    4. Screening for Disorders of Tyrosine Metabolism

      • S. Halvorsen
      Pages 45-57

    5. Neonatal Screening for Histidinemia

      • O. Thalhammer
      Pages 59-66

    6. Newborn Screening for Inherited Disorders of Galactose Metabolism

      • R. Gitzelmann
      Pages 67-79

    7. Neonatal Screening for Cystic Fibrosis

      • U. Stephan
      Pages 81-87

    8. Newborn Urine Screening

      • H. L. Levy, J. T. Coulombe, V. E. Shih
      Pages 89-103

    9. Neonatal Screening for Organic Acidurias

      • R. W. E. Watts
      Pages 105-121

    10. Significance and Need of Screening for Hyperlipidemia in Childhood

      • D. Seidel, H. Wieland
      Pages 123-131

    11. Screening for Hemoglobinopathies (Thalassemias and Other Abnormal Hemoglobins)

      • C. Kattamis
      Pages 133-147

    12. Screening for Glucose-6-Phosphate Dehydrogenase Deficiency and Other Erythrocyte Enzyme Defects

      • W. Schröter
      Pages 149-154

    13. Neonatal Screening for Muscular Dystrophy

      • R. Beckmann, J. M. Robert, H. Zellweger, L. Beubl, C. Dellamonica, G. Scheuerbrandt
      Pages 155-166

  4. Neonatal Screening for Congenital Hypothyroidism

    1. Screening for Congenital Hypothyroidism: 4 Years of Experience

      • J. H. Dussault, J. Letarte, H. Guyda
      Pages 167-178

    2. Neonatal Screening for Hypothyroidism by TSH Determination in Dried Blood

      • R. Illig
      Pages 179-189

    3. Experience with Primary Thyrotropin (TSH) Screening for Congenital Hypothyroidism in Pittsburgh, Pa.

      • T. P. Foley Jr., A. H. Klein, B. Foley, A. V. Augustin, H. M. MacDonald, N. J. Hopwood et al.
      Pages 191-197

    4. Neonatal Screening for Hypothyroidism in Brussels

      • F. Delange, P. Bourdoux, A.-M. Ermans
      Pages 199-205

    5. Results of the Toronto Regionalized Screening Program for Detecting Neonatal Hypothyroidism

      • P. G. Walfish, J. Ginsberg, N. J. Howard
      Pages 207-217
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Keywords

About this book

Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula­ tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro­ gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.

Editors and Affiliations

  • Universitäts-Kinderklinik, Heidelberg, Germany

    Horst Bickel, Gerhard Hammersen

  • Department of Pediatrics, State University of New York at Buffalo, Childrens Hospital, Buffalo, USA

    Robert Guthrie

Bibliographic Information

  • Book Title: Neonatal Screening for Inborn Errors of Metabolism

  • Editors: Horst Bickel, Robert Guthrie, Gerhard Hammersen

  • DOI: https://doi.org/10.1007/978-3-642-67488-4

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer-Verlag Berlin Heidelberg 1980

  • Softcover ISBN: 978-3-642-67490-7Published: 15 November 2011

  • eBook ISBN: 978-3-642-67488-4Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: XVIII, 348

  • Topics: Obstetrics/Perinatology/Midwifery, Pediatrics

  • Industry Sectors: Health & Hospitals

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