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Sequence of the E1a subunit of branched-chain a-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease


Sequence of the E1a subunit of branched-chain a-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease



American Journal of Human Genetics 46: 3-6



ISSN/ISBN: 0002-9297


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(PDF emailed within 1 workday: $29.90)

Accession: 018112044

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Related references

Maple syrup urine disease : complete primary structure of the E1β subunit of human branched chain α-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. The Journal of Clinical Investigation 86(1): 242-247, 1990

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. Journal of Clinical Investigation 86(1): 242-247, 1990

Maple syrup urine disease : complete defect of the E1β subunit of the branched chain α-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. The Journal of Clinical Investigation 87(5): 1862-1866, 1991

Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease. American Journal of Human Genetics 46(4): 843-846, 1990

Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease. Biochimica et Biophysica Acta 1361(3): 263-271, 1997

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. Journal of Clinical Investigation 87(5): 1862-1866, 1991

Identification of a mutation in the branched chain ketoacid dehydrogenase e1 alpha subunit in a patient with classical maple syrup urine disease. Clinical Research 36(6): 885A, 1988

Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity. Pediatric Research 20(2): 169-174, 1986

Premature translation termination of the pre-E1a subunit of the branched chain a-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves. The Journal of Biological Chemistry 265: 25-7, 1990

Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease. Molecular Biology and Medicine 8(1): 39-47, 1991

Screening for branched chain ketoacid dehydrogenase-E1beta/80del11 mutation in Turkish patients with maple syrup urine disease. Cocuk Sagligi ve Hastaliklari Dergisi 42(1): 11-17, 1999

Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves. Journal of Biological Chemistry 265(5): 2425-2427, 1990

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Molecular Genetics and Metabolism 129(3): 193-206, 2020

Regulation of the branched-chain α-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. Advances in Enzyme Regulation 30: 245-256, 1990

Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. Advances in Enzyme Regulation 30: 245-263, 1990



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