Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2014

Shi Xiaorong, Ke Zhongling, Zheng Aidong, Xie Wenhuang, Mo Guiling

Abstract excerpt

OBJECTIVE: To review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene. METHODS: Clinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Brain Diseases, Metabolic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Glutaryl-CoA Dehydrogenase

Share to Homozygote

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Share to Radiography

Source

Identifiers

PMID: 25297592
DOI: 10.3760/cma.j.issn.1003-9406.2014.01.015

Genes

GCDH

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].PMID 25297592Read ↗

Clinical and mutational spectrum of 4 Chinese families with glutaric aciduria type 1Semantic proximity Read ↗

[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].Semantic proximity Read ↗

[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].Semantic proximity Read ↗

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.Semantic proximity Read ↗

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.Semantic proximity Read ↗

[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].Semantic proximity Read ↗

Clinical, Biochemical and Molecular Characterizations of Patients With Glutaric Aciduria Type 1 in Henan Province, ChinaSemantic proximity Read ↗

Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.Semantic proximity Read ↗

[Analysis of GCDH gene variant in a child with Glutaric aciduria type I].Semantic proximity Read ↗

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.Semantic proximity Read ↗

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].Semantic proximity Read ↗

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.