Maple Syrup Urine Disease
Author:
Publisher
Elsevier
Reference10 articles.
1. Disorders of branched chain amino acid and keto acid metabolism;Chuang,1995
2. Human mutations affecting branched chain α-ketoacid dehydrogenase;Danner;Frontiers in Bioscience,1998
3. Thiamine responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase;Ellerine;Biochemical Medicine and Metabolic Biology,1993
4. Maple syrup urine disease in Mennonites: Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain α-ketoacid dehydrogenase complex;Fisher;Journal of Clinical Investigation,1991
5. Pregnancy in a woman with maple syrup urine disease;Grunewald;Journal of Inherited Metabolic Disease,1998
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