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

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.

The Journal of international medical research - 1 Apr 2018

Smon Andraz, Groselj Urh, Debeljak Marusa, Zerjav Tansek Mojca, Bertok Sara, Avbelj Stefanija Magdalena, Trebusak Podkrajsek Katarina, Battelino Tadej, Repic Lampret Barbka

Abstract excerpt

Objective The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected the first two patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the country. Two novel ACADM mutations are also described. Methods Both patients were diagnosed clinically; follow-up involved analysis of organic acids in urine,...

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 Carboxylic Acids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carnitine

Share to Dried Blood Spot Testing

Share to Infant

Share to Infant, Newborn

Share to Lipid Metabolism, Inborn Errors

Share to Neonatal Screening

Source

Open in PubMed Open full text

Identifiers

PMID: 29350094
DOI: 10.1177/0300060517734123
PMCID: PMC6091831

Genes

ACADM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.PMID 29350094Read ↗

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

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

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).Semantic proximity Read ↗

Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].Semantic proximity Read ↗

Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.Semantic proximity Read ↗

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.Semantic proximity Read ↗

A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.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 ↗

The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.Semantic proximity Read ↗

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.Semantic proximity Read ↗

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.Semantic proximity Read ↗

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