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

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 Jan 1991

Gregersen N, Andresen B S, Bross P, Winter V, Rüdiger N, Engst S, Ghisla S, Christensen E, Kelly D, Strauss A W

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Acyl-CoA Dehydrogenase
Share to Acyl-CoA Dehydrogenases
Share to Base Sequence

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

Share to Blotting, Northern

Share to Blotting, Western

Share to Haplotypes

Share to Molecular Sequence Data

Share to RNA, Messenger

Source

Identifiers

PMID: 1770781
DOI: 10.1007/BF01811691

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

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.PMID 1770781Read ↗

The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.Semantic proximity Read ↗

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.Semantic proximity Read ↗

Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death.Semantic proximity Read ↗

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.Semantic proximity Read ↗

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

Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach.Semantic proximity Read ↗

Molecular analysis of medium chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.Semantic proximity Read ↗

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.Semantic proximity Read ↗

Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency.Semantic proximity Read ↗

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