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

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

Molecular genetics and metabolism - 1 Jun 2006

Boneh A, Andresen B S, Gregersen N, Ibrahim M, Tzanakos N, Peters H, Yaplito-Lee J, Pitt J J

Abstract excerpt

We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria (prevalence rate: 1:31,500). We identified seven known and two new mutations in our patients (2/6 homozygotes; 4/6 compound heterozygotes). Blood samples taken at age 48-72 h were diagnostic whereas repeat samples at an older age were normal in 4/6 babies. 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, Long-Chain
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blood Specimen Collection

Share to Carnitine

Share to Mass Spectrometry

Share to Metabolism, Inborn Errors

Share to Neonatal Screening

Share to RNA Splice Sites

Source

Identifiers

PMID: 16488171
DOI: 10.1016/j.ymgme.2005.12.012

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

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.PMID 16488171Read ↗

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.Semantic proximity Read ↗

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.Semantic proximity Read ↗

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.Semantic proximity Read ↗

VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.Semantic proximity Read ↗

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.Semantic proximity Read ↗

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.Semantic proximity Read ↗

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

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?Semantic proximity Read ↗

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.Semantic proximity Read ↗

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.Semantic proximity Read ↗

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