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Article

[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Nov 2014

Wu Moling, Liu Li, Cai Yanna, Sheng Huiying, Cheng Jing, Li Xiuzhen, Yin Xi, Lu Zhikun, Lin Ruizhu, Zhou Zhizi, Fan Liping, Liu Hongsheng

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics and genetype of one children who had been diagnosed with pyruvate dehydrogenase complex deficiency. METHOD: Comprehensive analyses of this case were performed, including clinical symptoms, signs, biochemical examinations and therapeutic effects. The eleven exons and splicing areas of PDHA1 were amplified with genomic DNA from whole blood. And variations were...

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Source

Identifiers

PMID: 25582476

Genes

PDHA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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