Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference19 articles.
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4. Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype;Chuang;J. Biol. Chem.,2004
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1. Identification of a novel homozygous mutation of the BCKDHB gene in an Iranian patient with maple syrup disease using next-generation sequencing;Human Gene;2023-05
2. Three new genes associated with longevity in the European Bison;Veterinary and Animal Science;2022-09
3. 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
4. Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity;Orphanet Journal of Rare Diseases;2020-11-01
5. A retrospective study of adult patients with noncirrhotic hyperammonemia;Journal of Inherited Metabolic Disease;2020-08-16
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