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Article

[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2016

Huang X W, Zhang Y, Yang J B, Hong F, Qian G L, Tong F, Mao H Q, Huang X L, Zhou X L, Yang R L, Zhao Z Y

Abstract excerpt

Objective: To investigate the incidence, clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Method: From January, 2009 to October, 2015, a retrospective analysis of the urine organic acids and acyl-coenzyme A dehydrogenase (ACADS) gene mutation characteristics of patients diagnosed as SCADD by newborn screening using tandem mass spectrometry in...

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Source

Identifiers

PMID: 27938594
DOI: 10.3760/cma.j.issn.0578-1310.2016.12.011

Genes

ACADS

Variants

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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