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

Inherited disorders of mitochondrial fatty acid oxidation: a new responsibility for the neonatologist.

Seminars in neonatology : SN - 1 Feb 2002

Roe Charles R

Abstract excerpt

The disorders of mitochondrial fat oxidation present clinically with three major clinical phenotypes: hypoketotic hypoglycemia, cardiomyopathy, and myopathy. Although these features can present together in some of the disorders, one will be the dominant clinical problem. This review will describe these clinical phenotypes while addressing the diagnostic value of various clinical and laboratory studies which are...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diagnosis, Differential
Share to Fatty Acids
Share to Infant, Newborn

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

Share to Lipid Metabolism, Inborn Errors

Share to Mass Spectrometry

Share to Mitochondria

Share to Neonatal Screening

Share to Oxidation-Reduction

Source

Identifiers

PMID: 12069537
DOI: 10.1053/siny.2002.0097

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

Inherited disorders of mitochondrial fatty acid oxidation: a new responsibility for the neonatologist.PMID 12069537Read ↗

Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders.Semantic proximity Read ↗

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.Semantic proximity Read ↗

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.Semantic proximity Read ↗

Common metabolic disorder (inborn errors of metabolism) concerns in primary care practiceSemantic proximity Read ↗

The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic DisordersSemantic 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 ↗

Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.Semantic proximity Read ↗

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.Semantic proximity Read ↗

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

Human biochemical genetics: an insight into inborn errors of metabolism.Semantic proximity Read ↗

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disordersSemantic proximity Read ↗

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.Semantic proximity Read ↗

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