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[Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Sept 2017

Cheng Yan-Yang, Tang Yue, Liu Ao-Jie, Wei Li, Lin Lan, Zhang Jing, Zhi Liang

Abstract excerpt

OBJECTIVE: To investigate the clinical and genetic features of two families with late-onset glutaric aciduria type II caused by ETFDH mutations. METHODS: Target gene sequence capture and next generation sequencing were used for sequencing of suspected patients and their family members. The patients' clinical features were retrospectively analyzed and literature review was performed. RESULTS: The probands of the...

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Child
Computational Biology
Electron-Transferring Flavoproteins
Iron-Sulfur Proteins
Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oxidoreductases Acting on CH-NH Group Donors

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PMID: 28899466
PMCID: PMC7403065

Genes

ETFDH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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