Condition: Maple syrup urine disease, type 1A
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.
PMID 19480318 2009 Molecular genetics of maple syrup urine disease in the Turkish population.
PMID 26830710 2016 Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
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 27403441 2016 Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.
PMID 21098507 2011 Phenylbutyrate therapy for maple syrup urine disease.
PMID 10694918 1998 A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
PMID 23765052 2014 Next-generation carrier screening.
PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.
PMID 24374108 2014 Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.