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 enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

Journal of inherited metabolic disease - 1 Mar 2012

Hoffmann Lars, Haussmann Ulrike, Mueller Martina, Spiekerkoetter Ute

Abstract excerpt

Tandem mass spectrometry-based newborn screening correctly identifies individuals with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). However, a great number of healthy individuals present with identical acylcarnitine profiles during catabolism in the first three days of life. We routinely perform an enzyme activity assay as confirmation analysis in newborns identified by screening. Whereas VLCAD...

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 Congenital Bone Marrow Failure Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Lipid Metabolism, Inborn Errors

Share to Mitochondrial Diseases

Share to Muscular Diseases

Share to Neonatal Screening

Share to Risk Assessment

Source

Identifiers

PMID: 21932095
DOI: 10.1007/s10545-011-9391-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.PMID 21932095Read ↗

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

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

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

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.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 ↗

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.Semantic proximity Read ↗

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

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

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

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

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