dc.contributor.author | Huemer, Martina | |
dc.contributor.author | Trejo-Gabriel-Galan, Jose M. | |
dc.contributor.author | Trefz, Friedrich | |
dc.contributor.author | Tsuji, Megumi | |
dc.contributor.author | Antonia Vilaseca, Maria | |
dc.contributor.author | von Kleist-Retzow, Juergen-Christoph | |
dc.contributor.author | Walker, Valerie | |
dc.contributor.author | Zeman, Jiri | |
dc.contributor.author | Baumgartner, Matthias R. | |
dc.contributor.author | Fowler, Brian | |
dc.contributor.author | Demirkol, Muebeccel | |
dc.contributor.author | Gokcay, Gülden Fatma | |
dc.contributor.author | Taddeucci, Grazia | |
dc.contributor.author | Mulder-Bleile, Regina | |
dc.contributor.author | Burda, Patricie | |
dc.contributor.author | Froese, D. Sean | |
dc.contributor.author | Suormala, Terttu | |
dc.contributor.author | Ben Zeev, Bruria | |
dc.contributor.author | Chinnery, Patrick F. | |
dc.contributor.author | Dionisi-Vici, Carlo | |
dc.contributor.author | Dobbelaere, Dries | |
dc.contributor.author | Haeberle, Johannes | |
dc.contributor.author | Lossos, Alexander | |
dc.contributor.author | Mengel, Eugen | |
dc.contributor.author | Morris, Andrew A. | |
dc.contributor.author | Niezen-Koning, Klary E. | |
dc.contributor.author | Plecko, Barbara | |
dc.contributor.author | Parini, Rossella | |
dc.contributor.author | Rokicki, Dariusz | |
dc.contributor.author | Schiff, Manuel | |
dc.contributor.author | Schimmel, Mareike | |
dc.contributor.author | Sewell, Adrian C. | |
dc.contributor.author | Sperl, Wolfgang | |
dc.contributor.author | Spiekerkoetter, Ute | |
dc.contributor.author | Steinmann, Beat | |
dc.date.accessioned | 2021-03-04T11:05:49Z | |
dc.date.available | 2021-03-04T11:05:49Z | |
dc.date.issued | 2016 | |
dc.identifier.citation | Huemer M., Mulder-Bleile R., Burda P., Froese D. S. , Suormala T., Ben Zeev B., Chinnery P. F. , Dionisi-Vici C., Dobbelaere D., Gokcay G. F. , et al., "Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.", Journal of inherited metabolic disease, cilt.39, sa.1, ss.115-24, 2016 | |
dc.identifier.issn | 0141-8955 | |
dc.identifier.other | av_709aba04-b729-40a6-aef9-bcf212464f63 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/77599 | |
dc.identifier.uri | https://doi.org/10.1007/s10545-015-9860-6 | |
dc.description.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. | |
dc.language.iso | eng | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Tıp | |
dc.title | Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. | |
dc.type | Makale | |
dc.relation.journal | Journal of inherited metabolic disease | |
dc.contributor.department | University Children''s Hospital Zurich , , | |
dc.identifier.volume | 39 | |
dc.identifier.issue | 1 | |
dc.identifier.startpage | 115 | |
dc.identifier.endpage | 24 | |
dc.contributor.firstauthorID | 229694 | |