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

BACKGROUND: Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare (<200 reported cases) inborn defect of the remethylation of homocysteine to methionine. This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a larger cohort. METHODS: Cli...

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發表在:J Inherit Metab Dis
Main Authors: Huemer, Martina, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Zeev, Bruria Ben, Chinnery, Patrick, Dionisi-Vici, Carlo, Dobbelaere, Dries, Gökcay, Gülden, Häberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew, Niezen-Koning, Klary E., Plecko, Barbara, Parini, Rosella, Rokicki, Dariusz, Schiff, Manuel, Schimmel, Mareike, Sewell, Adrian, Sperl, Wolfgang, Spiekerkötter, Ute, Steinmann, Beat, Tadeucci, Grazia, Trejo, Jose, Trefz, Friedrich, Tsuji, Megumi, Vilaseca, María Antònia, von Kleist-Retzow, Jürgen-Christoph, Walker, Valerie, Zeman, Jiri, Baumgartner, Matthias R., Fowler, Brian
格式: Artigo
語言:Inglês
出版: 2016
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551224/
https://ncbi.nlm.nih.gov/pubmed/26025547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9860-6
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