Skip to main content
Log in

Two different forms of maple syrup urine disease in a single family

  • Letters to the Editors
  • Published:
Human Genetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Chang PL, Davidson RG (1983) Pseudo-arylsulfatase A deficiency in healthy individuals. Genetic and biochemical relationship to metachromatic leukodystrophy. Proc Natl Acad Sci USA 80: 7323–7327

    Google Scholar 

  • Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH, Elsas LJ (1985) Absence of branched chain acyltransferase as a cause of maple syrup urine disease. J Clin Invest 75:858–860

    Google Scholar 

  • Frézal J, Amédée-Manesme O, Mitchell G, Heuertz S, Rey F, Rey J, Saudubray JM (1985) Maple syrup urine disease: two different forms within a single family. Hum Genet 71:89–91

    Google Scholar 

  • Langenbeck U (1984) Pathobiochemical and pathophysiologic analysis of the MSUD phenotype. In: Adibi SA, Fekl W, Langenbeck U, Schauder P (eds) Branched chain amino and ketoacids in health and disease. Karger, Basel, pp 315–334

    Google Scholar 

  • Langenbeck U, Dunker P, Heipertz R, Pilz H (1977) Inheritance of metachromatic leukodystrophy. Am J Hum Genet 29:639–640

    Google Scholar 

  • Saudubray JM, Amédée-Manesme O, Munnich A, Ogier H, Depondt E, Charpentier C, Coudé FX, Rey F, Frézal J (1982) Hétérogénéité de la leucinose. Corrélations entre l'aspect clinique, la tolérance protéique et le déficit enzymatique. Arch Fr Pédiatr 39:735–740

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Langenbeck, U. Two different forms of maple syrup urine disease in a single family. Hum Genet 72, 279 (1986). https://doi.org/10.1007/BF00291898

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291898

Keywords

Navigation