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

doi:10.1007/s10545-015-9860-6

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Article

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

Journal of inherited metabolic disease - 1 Jan 2016

Huemer Martina, Mulder-Bleile Regina, Burda Patricie, Froese D Sean, Suormala Terttu, Zeev Bruria Ben, Chinnery Patrick F, Dionisi-Vici Carlo, Dobbelaere Dries, Gökcay Gülden, Demirkol Mübeccel, Häberle Johannes, Lossos Alexander, Mengel Eugen, Morris Andrew A, Niezen-Koning Klary E, Plecko Barbara, Parini Rossella, Rokicki Dariusz, Schiff Manuel, Schimmel Mareike, Sewell Adrian C, Sperl Wolfgang, Spiekerkoetter Ute, Steinmann Beat, Taddeucci Grazia, Trejo-Gabriel-Galán Jose M, Trefz Friedrich, Tsuji Megumi, Vilaseca María Antònia, von Kleist-Retzow Jürgen-Christoph, Walker Valerie, Zeman Jiri, Baumgartner Matthias R, Fowler Brian

Abstract excerpt

BACKGROUND: Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a cohort of 33 patients. METHODS: Clinical, biochemical and treatment data was obtained from physicians by using a questionnaire. MTHFR...

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PMID: 26025547
DOI: 10.1007/s10545-015-9860-6
PMCID: PMC6551224

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MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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