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

Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations.

The Journal of pediatrics - 1 Mar 2001

Ibdah J A, Zhao Y, Viola J, Gibson B, Bennett M J, Strauss A W

Abstract excerpt

OBJECTIVES: To evaluate the feasibility of molecular prenatal diagnosis in families with mitochondrial trifunctional protein (TFP) mutations and prospectively study the effects of fetal genotype on pregnancy outcome. TFP catalyzes the last 3 steps in mitochondrial long-chain fatty acid oxidation. STUDY DESIGN: We performed molecular prenatal diagnosis in 9 pregnancies, 8 in 6 families with isolated long-chain...

Read the complete abstract on PubMed

Topics

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

Share to Amniocentesis
Share to Chorionic Villi Sampling
Share to Fatty Liver

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipid Metabolism, Inborn Errors

Share to Multienzyme Complexes

Share to Pregnancy

Share to Pregnancy Complications

Share to Pregnancy Outcome

Source

Identifiers

PMID: 11241049
DOI: 10.1067/mpd.2001.111503

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

Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations.PMID 11241049Read ↗

Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.Semantic proximity Read ↗

Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.Semantic proximity Read ↗

Prospective Screening for Pediatric Mitochondrial Trifunctional Protein Defects in Pregnancies Complicated by Liver DiseaseSemantic proximity Read ↗

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.Semantic proximity Read ↗

Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.Semantic proximity Read ↗

Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.Semantic proximity Read ↗

Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.Semantic proximity Read ↗

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.Semantic proximity Read ↗

Mitochondrial trifunctional protein defects: clinical implications and therapeutic approaches.Semantic proximity Read ↗

A national perspective on prenatal testing for mitochondrial disease.Semantic proximity Read ↗

Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches.Semantic proximity Read ↗

Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome.Semantic proximity Read ↗

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