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

Antenatal presentation of carnitine palmitoyltransferase II deficiency.

American journal of medical genetics - 1 Aug 2001

Elpeleg O N, Hammerman C, Saada A, Shaag A, Golzand E, Hochner-Celnikier D, Berger I, Nadjari M

Abstract excerpt

Carnitine palmitoyl transferase (CPT) II deficiency is usually manifested around puberty by exercise induced myoglobinuria. Two Ashkenazi Jewish sibs with the rare antenatal form of CPTII deficiency are reported. On the 5th gestational month periventricular calcifications and markedly enlarged kidneys were found in both of them. The activity of CPTII in lymphocytes was undetectable and both sibs were homozygous...

Read the complete abstract on PubMed

Topics

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

Share to Calcinosis
Share to Carnitine O-Palmitoyltransferase

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

Share to Cerebral Ventricles

Share to Fatal Outcome

Share to Fetal Death

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 11477613
DOI: 10.1002/ajmg.1457

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 · 8 closest

Antenatal presentation of carnitine palmitoyltransferase II deficiency.PMID 11477613Read ↗

Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in PregnancySemantic proximity Read ↗

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.Semantic proximity Read ↗

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

Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features.Semantic proximity Read ↗

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I DeficiencySemantic proximity Read ↗

Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC typeSemantic proximity Read ↗

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.Semantic proximity Read ↗

Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.Semantic proximity Read ↗

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