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Journal of Inherited Metabolic Disease

, Volume 12, Supplement 2, pp 329–331 | Cite as

Aspartoacylase Deficiency: The Enzyme Defect in Canavan Disease

  • R. Matalon
  • R. Kaul
  • J. Casanova
  • K. Michals
  • A. Johnson
  • I. Rapin
  • P. Gashkoff
  • M. Deanching
Short Communication — SSIEM Award

Keywords

Bovine Brain Brain Biopsy Leukodystrophy Adrenoleukodystrophy Enzyme Defect 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. van Bogaert, L. and Bertrand, I. Spongy Degeneration of Brain in Infancy. North Holland, Amsterdam, 1967, pp. 3–132Google Scholar
  2. Divry, P., Vianey-Liaud, C., Gay, C., Macabeo, V., Rapin, F. and Echenne, B. N-Acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leucodystrophy J. Inker. Metab. Dis. 11 (1988) 307–308CrossRefGoogle Scholar
  3. Goodman, S. I. and Markey, S. P. Diagnosis of Organic Acidemias by Gas Chromatography-Mass Spectrometry. Alan R. Liss, New York, 1981, pp. 3–24Google Scholar
  4. Hagenfeldt, L., Bollgren, I. and Venizelos, N. N-Acetylaspartic aciduria due to aspartoacylase deficiency — a new etiology of childhood leukodystrophy. J. Inher. Metab. Dis. 10 (1987) 135–141PubMedCrossRefGoogle Scholar
  5. Kvittingen, E. A., Guldal, G., Borsting, S., Skalpe, I. O., Stokke, O. and Jellum, E. N-Acetylaspartic aciduria in a child with a progressive cerebral atrophy. Clin. Chim. Acta 158 (1986) 217–227PubMedCrossRefGoogle Scholar
  6. Matalon, R. and Dorfman, A. Hurler’s syndrome: Biosynthesis of acid mucopolysaccharides in tissue culture. Proc. Nat. Acad. Sci. USA 56 (1966) 1310–1316PubMedCrossRefGoogle Scholar
  7. Matalon, R., Michals, K., Sebesta, D., Deanching, M., Gashkoff, P. and Casanova, J. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am. J. Med. Genet. 29 (1988) 463–471PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Springer Netherlands 1989

Authors and Affiliations

  • R. Matalon
    • 1
  • R. Kaul
    • 1
  • J. Casanova
    • 1
  • K. Michals
    • 1
  • A. Johnson
    • 2
  • I. Rapin
    • 2
  • P. Gashkoff
    • 1
  • M. Deanching
    • 1
  1. 1.Department of PediatricsUniversity of IllinoisChicagoUSA
  2. 2.Albert Einstein College of MedicineNYUSA

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