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

Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.

International journal of legal medicine - 1 Sept 2020

Heathfield Laura Jane, Bhengu Wenelisile, Louw Susan, Martin Lorna Jean, Ramesar Raj

Abstract excerpt

Sudden unexpected death in infants (SUDI) is a devastating event, and unfortunately is still a burden in many parts of the world, including in South Africa. Due to the absence of routine testing for inborn metabolic diseases in newborns and in a post-mortem context, little is known about the presence of metabolic diseases in local SUDI cases. The aim of this study was to genotype five candidate variants...

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 Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glutaryl-CoA Dehydrogenase

Share to Lipid Metabolism, Inborn Errors

Share to Metabolism, Inborn Errors

Share to South Africa

Share to Sudden Infant Death

Share to UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Identifiers

PMID: 32556492
DOI: 10.1007/s00414-020-02337-6

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

Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.PMID 32556492Read ↗

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD studySemantic proximity Read ↗

Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.Semantic proximity Read ↗

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.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 ↗

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.Semantic proximity Read ↗

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.Semantic proximity Read ↗

An Assessment of Traditional and Genomic Screening in Newborns and their Applicability for AfricaSemantic proximity Read ↗

Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.Semantic proximity Read ↗

An overview of a cohort of South African patients with mitochondrial disorders.Semantic proximity Read ↗

Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.Semantic proximity Read ↗

Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa.Semantic proximity Read ↗

The molecular basis of South African genetic porphyria established at last!Semantic proximity Read ↗

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