PMID 9582350 1998 Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.
PMID 8037208 1994 Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
PMID 14567968 2004 Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.
PMID 21098507 2011 Phenylbutyrate therapy for maple syrup urine disease.
PMID 7883996 1995 Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
PMID 24881969 2014 Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
PMID 2703538 1989 Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
PMID 14517957 2003 Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
PMID 2241958 1990 A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
PMID 1867199 1991 Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
PMID 16468966 2006 Elective liver transplantation for the treatment of classical maple syrup urine disease.
PMID 1885764 1991 Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
PMID 11507102 2001 Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease.
PMID 8161368 1993 Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
PMID 2060625 1991 Based on this gene structure, exon 9 contains the Tyr393----Asn mutation previously identified in the E1 alpha subunit of Mennonite and other maple syrup urine disease (MSUD) patients.
rs137852870 in
BCKDHA gene and
Maple syrup urine disease, type 1A
PMID 14567968 2004 Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.
PMID 2703538 1989 Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
PMID 12888983 2003 Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
PMID 14517957 2003 Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.