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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Publicat a:J Inherit Metab Dis
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2016
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Article
Accés en línia: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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