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

dc.contributor.authorHuemer, Martina
dc.contributor.authorTrejo-Gabriel-Galan, Jose M.
dc.contributor.authorTrefz, Friedrich
dc.contributor.authorTsuji, Megumi
dc.contributor.authorAntonia Vilaseca, Maria
dc.contributor.authorvon Kleist-Retzow, Juergen-Christoph
dc.contributor.authorWalker, Valerie
dc.contributor.authorZeman, Jiri
dc.contributor.authorBaumgartner, Matthias R.
dc.contributor.authorFowler, Brian
dc.contributor.authorDemirkol, Muebeccel
dc.contributor.authorGokcay, Gülden Fatma
dc.contributor.authorTaddeucci, Grazia
dc.contributor.authorMulder-Bleile, Regina
dc.contributor.authorBurda, Patricie
dc.contributor.authorFroese, D. Sean
dc.contributor.authorSuormala, Terttu
dc.contributor.authorBen Zeev, Bruria
dc.contributor.authorChinnery, Patrick F.
dc.contributor.authorDionisi-Vici, Carlo
dc.contributor.authorDobbelaere, Dries
dc.contributor.authorHaeberle, Johannes
dc.contributor.authorLossos, Alexander
dc.contributor.authorMengel, Eugen
dc.contributor.authorMorris, Andrew A.
dc.contributor.authorNiezen-Koning, Klary E.
dc.contributor.authorPlecko, Barbara
dc.contributor.authorParini, Rossella
dc.contributor.authorRokicki, Dariusz
dc.contributor.authorSchiff, Manuel
dc.contributor.authorSchimmel, Mareike
dc.contributor.authorSewell, Adrian C.
dc.contributor.authorSperl, Wolfgang
dc.contributor.authorSpiekerkoetter, Ute
dc.contributor.authorSteinmann, Beat
dc.date.accessioned2021-03-04T11:05:49Z
dc.date.available2021-03-04T11:05:49Z
dc.date.issued2016
dc.identifier.citationHuemer 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.issn0141-8955
dc.identifier.otherav_709aba04-b729-40a6-aef9-bcf212464f63
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/77599
dc.identifier.urihttps://doi.org/10.1007/s10545-015-9860-6
dc.description.abstractBackground 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.isoeng
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectGENETİK VE HAYAT
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectTıp
dc.titleClinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
dc.typeMakale
dc.relation.journalJournal of inherited metabolic disease
dc.contributor.departmentUniversity Children''s Hospital Zurich , ,
dc.identifier.volume39
dc.identifier.issue1
dc.identifier.startpage115
dc.identifier.endpage24
dc.contributor.firstauthorID229694


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