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

Retrospective approach to methylenetetrahydrofolate reductase mutations in children.

Pediatric neurology - 1 Jul 2011

Özer Işıl, Özçetin Mustafa, Karaer Hatice, Kurt Semiha G, Şahin Şemsettin

Abstract excerpt

Methylenetetrahydrofolate reductase reduces methyltetrahydrofolate, a cosubstrate in the remethylation of homocysteine, from methylenetetrahydrofolate. Congenital defects, hematologic tumors, and intrauterine growth retardation can occur during childhood. This study evaluated clinical and laboratory treatment approaches in children diagnosed with methylenetetrahydrofolate reductase mutations. Our group included...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Infant
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metabolism, Inborn Errors

Share to Methylenetetrahydrofolate Reductase (NADPH2)

Share to Neural Tube Defects

Share to Pregnancy

Share to Prevalence

Source

Identifiers

PMID: 21723457
DOI: 10.1016/j.pediatrneurol.2011.01.019

Genes

MTHFR

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

Retrospective approach to methylenetetrahydrofolate reductase mutations in children.PMID 21723457Read ↗

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.Semantic proximity Read ↗

A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder.Semantic proximity Read ↗

MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.Semantic proximity Read ↗

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registrySemantic proximity Read ↗

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.Semantic proximity Read ↗

Survival and Psychomotor Development With Early Betaine Treatment in Patients With Severe Methylenetetrahydrofolate Reductase DeficiencySemantic proximity Read ↗

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.Semantic proximity Read ↗

Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family.Semantic proximity Read ↗

Treatment of Inherited HomocystinuriasSemantic proximity Read ↗

Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring.Semantic proximity Read ↗

Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene.Semantic proximity Read ↗

Pitfalls in the diagnosis of 5α-reductase type 2 deficiency during early infancy.Semantic proximity Read ↗

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