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 deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

TheScientificWorldJournal - 1 Jan 2013

Catarzi Serena, Caciotti Anna, Thusberg Janita, Tonin Rodolfo, Malvagia Sabrina, la Marca Giancarlo, Pasquini Elisabetta, Cavicchi Catia, Ferri Lorenzo, Donati Maria A, Baronio Federico, Guerrini Renzo, Mooney Sean D, Morrone Amelia

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during stress conditions, leading to lethargy, seizures, brain damage, or even death. Biochemical acylcarnitines data obtained through newborn screening by liquid chromatography-tandem mass spectrometry (LC-MS/MS) were confirmed by molecular analysis of the...

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 Incidence

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

Share to Lipid Metabolism, Inborn Errors

Share to Neonatal Screening

Share to Proportional Hazards Models

Share to Risk Assessment

Share to Sensitivity and Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 24294134
DOI: 10.1155/2013/625824
PMCID: PMC3833120

Genes

ACADM

Variants

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

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.PMID 24294134Read ↗

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

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

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.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 ↗

Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.Semantic proximity Read ↗

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

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

Clinical, biochemical and molecular characterization of newborns with fatty acid β-oxidation disorders: new variants in the<i>ACADM</i>,<i>ACADVL</i>and<i>SLC22A5</i>genesSemantic proximity Read ↗

Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.Semantic proximity Read ↗

Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].Semantic proximity Read ↗

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

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