Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Date
2016Author
Huemer, Martina
Trejo-Gabriel-Galan, Jose M.
Trefz, Friedrich
Tsuji, Megumi
Antonia Vilaseca, Maria
von Kleist-Retzow, Juergen-Christoph
Walker, Valerie
Zeman, Jiri
Baumgartner, Matthias R.
Fowler, Brian
Demirkol, Muebeccel
Gokcay, Gülden Fatma
Taddeucci, Grazia
Mulder-Bleile, Regina
Burda, Patricie
Froese, D. Sean
Suormala, Terttu
Ben Zeev, Bruria
Chinnery, Patrick F.
Dionisi-Vici, Carlo
Dobbelaere, Dries
Haeberle, 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
Metadata
Show full item recordAbstract
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.
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- Makale [92796]