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

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.

Journal of the neurological sciences - 15 Dec 2017

Rommer Paulus S, Zschocke Johannes, Fowler Brian, Födinger Manuela, Konstantopoulou Vassiliki, Möslinger Dorothea, Stögmann Elisabeth, Suess Erhard, Baumgartner Matthias, Auff Eduard, Sunder-Plassmann Gere

Abstract excerpt

BACKGROUND: Methylenetetrahydrofolate-reductase (MTHFR) deficiency is a rare autosomal recessive disorder affecting intracellular folate metabolism with affection of different organ systems and clinical manifestation usually in childhood. OBJECTIVE: We report on four adult members of a family with MTHFR deficiency presenting with neurological and thromboembolic complications in adulthood. METHODS: Extensive...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homocysteine

Share to Homocystinuria

Share to Methylenetetrahydrofolate Reductase (NADPH2)

Share to Muscle Spasticity

Share to Psychotic Disorders

Share to Thromboembolism

Source

Identifiers

PMID: 29246599
DOI: 10.1016/j.jns.2017.10.035

Genes

MTHFR

Variants

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

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.PMID 29246599Read ↗

Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult.Semantic proximity Read ↗

Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.Semantic proximity Read ↗

Severe Methylenetetrahydrofolate Reductase DeficiencySemantic proximity Read ↗

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation.Semantic proximity Read ↗

Molecular biology of 5,10-methylenetetrahydrofolate reductase.Semantic proximity Read ↗

Pediatric Cerebral Infarction Unraveled: A Case of MTHFR Mutation and Hyperhomocysteinemia-Case ReportSemantic proximity Read ↗

Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.Semantic proximity Read ↗

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.Semantic proximity Read ↗

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencySemantic proximity Read ↗

Ischaemic stroke with multi-focal venous and arterial thrombosis due to hyperhomocysteinemia: anabolic androgenic steroid use and MTHFR c.667 C > T variant - a case report.Semantic proximity Read ↗

Ischaemic stroke with multi-focal venous and arterial thrombosis due to hyperhomocysteinemia: anabolic androgenic steroid use and MTHFR c.667C>T variant.Semantic proximity Read ↗

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

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