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

Huemer, Martina; Mulder-Bleile, Regina; Burda, Patricie; Froese, D.; Suormala, Terttu; Ben Zeev, Bruria; Chinnery, Patrick; Dionisi-Vici, Carlo; Dobbelaere, Dries; Gokcay, GÜLDEN; Demirkol, Muebeccel; Haeberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew; Niezen-Koning, Klary; Plecko, Barbara; Parini, Rossella; Rokicki, Dariusz; Schiff, Manuel; Schimmel, Mareike; Sewell, Adrian; Sperl, Wolfgang; Spiekerkoetter, Ute; Steinmann, Beat; Taddeucci, Grazia; Trejo-Gabriel-Galan, Jose; Trefz, Friedrich; Tsuji, Megumi; Antonia Vilaseca, Maria; von Kleist-Retzow, Juergen-Christoph; Walker, Valerie; Zeman, Jiri; Baumgartner, Matthias; Fowler, Brian

doi:10.1007/s10545-015-9860-6

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

Huemer M., Mulder-Bleile R., Burda P., Froese D. S., Suormala T., Ben Zeev B., ...More

Journal of inherited metabolic disease, vol.39, no.1, pp.115-24, 2016 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 39 Issue: 1
Publication Date: 2016
Doi Number: 10.1007/s10545-015-9860-6
Journal Name: Journal of inherited metabolic disease
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.115-24
Istanbul University Affiliated: Yes

Abstract

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.