Article

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease

2021-02-24

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 girls and 4 boys) with MSUD from 8 unrelated Chinese families were diagnosed at the age of 9 days to 1 year and 8 months. All the coding regions and exon/intron boundaries of BCKDHA,...

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Literature Corpus work: 82cf74d0-f086-523f-b5bd-56f20d3c6268
DOI: 10.21203/rs.3.rs-221149/v1

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