Maple syrup urine disease: Two different forms within a single family View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1985-09

AUTHORS

J. Frézal, O. Amédée-Manesme, G. Mitchell, S. Heuertz, F. Rey, J. Rey, J. M. Saudubray

ABSTRACT

A family is reported in which the index case presented with an acute form of maple syrup urine disease (MSUD), whereas two of her sisters and her father were found to have an almost asymptomatic form of the disease. It is proposed that the members of this family are compound heterozygotes for the classical deficient mutant gene and for a "variant" allele. More... »

PAGES

89-91

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00295676

DOI

http://dx.doi.org/10.1007/bf00295676

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022333081

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/4029957


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