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Article

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2015

Jinjun Cao, Wenjuan Qiu, Ruinan Zhang, Jun Ye, Lianshu Han, Huiwen Zhang, Qigang Zhang, Xuefan Gu

Abstract excerpt

OBJECTIVE: To investigate the clinical and laboratory features of very long chain acyl-CoA dehydrogenase deficiency ( VLCADD ) and the correlations between its genotype and phenotype. METHOD: Eleven patients diagnosed as VLCADD of Shanghai Jiaotong University School of Medicine seen from September 2006 to May 2014 were included. There were 9 boys and 2 girls, whose age was 2 d-17 years. Analysis was performed on...

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Source

Identifiers

PMID: 26182500

Genes

ACADVL

Provenance

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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