Gene Preference in Maple Syrup Urine Disease
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference22 articles.
1. Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease;Ævarsson;Structure Fold Des,2000
2. Disorders of branched chain amino acid and keto acid metabolism;Chuang,1995
3. Absence of branched chain acyl-transferase as a cause of maple syrup urine disease;Danner;J Clin Invest,1985
4. Thiamine increases the specific activity of human liver branched chain α-ketoacid dehydrogenase;Danner;Nature,1975
5. Human mutations affecting branched chain α-ketoacid dehydrogenase;Danner;Front Biosci,1998
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1. Nervous system reduction in branched-chain amino acid metabolism disrupts hippocampal neurogenesis and memory;2022-06-13
2. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease;Journal of Pediatric Endocrinology and Metabolism;2021-12-10
3. Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease;Clinica Chimica Acta;2021-06
4. Disorders of Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2021-04-20
5. Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity;Orphanet Journal of Rare Diseases;2020-11-01
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