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Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Sept 2021

Jiang Hong-Hua, Guo Yan, Shen Xian, Wang Ying, Dai Ting-Ting, Rong Hui, Cheng Rui, Zhao Fei

Abstract excerpt

OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. METHODS: Clinical data of a case of a newborn with MSUD was retrospectively studied. Literatures on MSUD in the local medical journals from January 1990 till December 2019 in China were reviewed. RESULTS: Two novel BCKDHB...

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Identifiers

PMID: 34187135
DOI: 10.1515/jpem-2020-0746

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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