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

Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.

Human genetics - 1 Jul 1996

de Vries H G, Niezen-Koning K, Kliphuis J W, Smit G P, Scheffer H, ten Kate L P

Abstract excerpt

The G985A mutation represents about 90% of all medium-chain acyl-CoA dehydrogenase (MCAD) allele mutations that cause the clinical symptoms of MCAD deficiency. The prevalence of carriers varies between different European populations, with high frequencies in the northwestern part of Europe. To determine the prevalence of MCAD carriers with the G985A mutation in The Netherlands, we collected 6195 Guthrie cards of...

Read the complete abstract on PubMed

Topics

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

Share to Acyl-CoA Dehydrogenases
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genetic Carrier Screening

Share to Genetic Testing

Share to Heterozygote

Share to Mutation

Share to Netherlands

Source

Identifiers

PMID: 8682492
DOI: 10.1007/s004390050149

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.PMID 8682492Read ↗

A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil.Semantic proximity Read ↗

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.Semantic proximity Read ↗

Mutation 985A>G in the MCAD gene shows low incidence in Estonian population.Semantic proximity Read ↗

Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.Semantic proximity Read ↗

Prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden.Semantic proximity Read ↗

Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies.Semantic proximity Read ↗

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.Semantic proximity Read ↗

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.Semantic proximity Read ↗

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.Semantic proximity Read ↗

Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.Semantic proximity Read ↗

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

MCAD deficiency in Denmark.Semantic proximity Read ↗

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