Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant
Panisara Lakkhana,
Thipwimol Tim-Aroon,
Arthaporn Khongkraparn
et al.
Abstract:Background
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by variants in any of the following genes: BCKDHA, BCKDHB, and DBT gene. Previous reports have highlighted a variety of common causing genes and variants among different ethnic groups affected by MSUD. This study is the first to describe the molecular characteristics, potential common variants, clinical phenotypes, and treatment outcomes of 20 Thai MSUD patients before the implementation of expan… Show more
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