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

Neonatal sinovenous thrombosis associated with homozygous thermolabile methylenetetrahydrofolate reductase in both mother and infant.

Journal of perinatology : official journal of the California Perinatal Association - 1 Mar 2002

Grow Jennifer L, Fliman Paola J, Pipe Steven W

Abstract excerpt

The C677T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) predicts substitution of valine for alanine at residue 223 (A223V). This thermolabile form of MTHFR has 50% reduced activity, has been associated with hyperhomocystinemia, and is a described risk factor for thrombosis in adults.(1-3) In addition, it has been associated with birth defects in the infants of affected mothers and with recurrent...

Read the complete abstract on PubMed

Topics

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

Share to Electroencephalography
Share to Enzyme Stability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracranial Thrombosis

Share to Metabolism, Inborn Errors

Share to Methylenetetrahydrofolate Reductase (NADPH2)

Share to Oxidoreductases Acting on CH-NH Group Donors

Share to Pregnancy Complications

Share to Seizures

Source

Identifiers

PMID: 11896528
DOI: 10.1038/sj.jp.7210615

Genes

MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neonatal sinovenous thrombosis associated with homozygous thermolabile methylenetetrahydrofolate reductase in both mother and infant.PMID 11896528Read ↗

Heterozygous methylenetetrahydrofolate reductase 677C-T gene mutation with mild hyperhomocysteinemia associated with intrauterine iliofemoral artery thrombosis.Semantic proximity Read ↗

[Cerebral sinovenous thrombosis in a newborn with mutation of MTHFR C677T treated with enoxaparin].Semantic proximity Read ↗

Evaluation of Patients with Neonatal Thrombosis.Semantic proximity Read ↗

Cerebral ultrasound abnormalities in offsprings of women with C677T homozygous mutation in the MTHFR gene: a prospective study.Semantic proximity Read ↗

Neonatal thrombosis and its treatment.Semantic proximity Read ↗

Tricuspid valve thrombus and pulmonary embolus in an infant with homozygous thermolabile methylenetetrahydrofolate reductase and heterozygous prothrombin G20210A variant.Semantic proximity Read ↗

Myocardial infarction in a newborn heterozygous for the MTHFR C677T mutation.Semantic proximity Read ↗

Recurrent cerebral venous thrombosis associated with heterozygote methylenetetrahydrofolate reductase C677T mutation and sickle cell trait without homocysteinemia: an autopsy case report and review of literature.Semantic proximity Read ↗

Neonatal antiphospholipid syndrome associated with heterozygous methylentetrahydrofolate reductase C677T and prothrombin G20210A gene mutations.Semantic proximity Read ↗

Renal venous thrombosis in a newborn with prothrombotic risk factors.Semantic proximity Read ↗

Methylenetetrahydrofolate Reductase C677T: Hypoplastic Left Heart and Thrombosis.Semantic proximity Read ↗

Pediatric Stroke and Methylenetetrahydrofolate Reductase PolymorphismsSemantic proximity Read ↗

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