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

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

Metabolic brain disease - 1 Oct 2017

Mosaeilhy Ahmed, Mohamed Magdy M, C George Priya Doss, El Abd Heba S A, Gamal Radwa, Zaki Osama K, Zayed Hatem

Abstract excerpt

Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, dystonia and frontotemporal atrophy. In this study, we investigated 18 Egyptian patients that were diagnosed with GAI based on their clinical, neuroradiological, and biochemical profiles. Of...

Read the complete abstract on PubMed

Topics

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

Share to 3' Untranslated Regions
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brain Diseases, Metabolic

Share to Consanguinity

Share to Developmental Disabilities

Share to Dystonia

Share to Glutaryl-CoA Dehydrogenase

Source

Identifiers

PMID: 28389991
DOI: 10.1007/s11011-017-0006-4

Genes

GCDH

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.PMID 28389991Read ↗

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

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

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.Semantic proximity Read ↗

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

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.Semantic proximity Read ↗

Infantile-Onset Glutaric Acidemia Type I with Mild Hepatopathy: Clinical, Biochemical, and Molecular Characterization of an Iranian Pediatric Cohort.Semantic proximity Read ↗

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

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

Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.Semantic proximity Read ↗

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.Semantic proximity Read ↗

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

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