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Article

[Maple syrup urine disease and gene mutations in twin neonates].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Dec 2016

Li Tao, Wang Yu, Li Cui, Xu Wei-Wei, Niu Feng-Hai, Zhang Di

Abstract excerpt

OBJECTIVE: To investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD. METHODS: The clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their...

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Source

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Identifiers

PMID: 27974115
PMCID: PMC7403074

Genes

BCKDHB
BCKDHA
DBT
DLD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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