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Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

dc.contributor.authorFowler, B.
dc.contributor.authorHuemer, M.
dc.contributor.authorAugoustides-Savvopoulou, P.
dc.contributor.authorSuormala, T.
dc.contributor.authorBuerer, C.
dc.contributor.authorLorenzl, S.
dc.contributor.authorLotz-Havla, A. S.
dc.contributor.authorNoss, J.
dc.contributor.authorParini, R.
dc.contributor.authorPeters, H.
dc.contributor.authorPlecko, B.
dc.contributor.authorRamos, F. J.
dc.contributor.authorSchlune, A.
dc.contributor.authorTsiakas, K.
dc.contributor.authorTansek, M. Zerjav
dc.contributor.authorBaumgartner, M. R.
dc.contributor.authorGokcay, Gülden Fatma
dc.contributor.authorJesina, P.
dc.contributor.authorKozich, V.
dc.contributor.authorLandolt, M. A.
dc.contributor.authorKoch, J.
dc.contributor.authorJardine, P.
dc.contributor.authorHennermann, J.
dc.contributor.authorDe Meirleir, L.
dc.contributor.authorBroomfield, A.
dc.contributor.authorBrennerova, K.
dc.contributor.authorBlair, E.
dc.date.accessioned2021-03-05T10:02:07Z
dc.date.available2021-03-05T10:02:07Z
dc.date.issued2015
dc.identifier.citationHuemer M., Buerer C., Jesina P., Kozich V., Landolt M. A. , Suormala T., Fowler B., Augoustides-Savvopoulou P., Blair E., Brennerova K., et al., "Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.", Journal of inherited metabolic disease, cilt.38, ss.957-67, 2015
dc.identifier.issn0141-8955
dc.identifier.otherav_a0f1d4aa-5295-4ccd-a4ec-2ef9a0d4791d
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/107912
dc.identifier.urihttps://doi.org/10.1007/s10545-014-9803-7
dc.description.abstractBackground The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine.
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectTıbbi Genetik
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectİç Hastalıkları
dc.titleClinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
dc.typeMakale
dc.relation.journalJournal of inherited metabolic disease
dc.contributor.departmentUniversity Children''s Hospital Zurich , ,
dc.identifier.volume38
dc.identifier.issue5
dc.identifier.startpage957
dc.identifier.endpage67
dc.contributor.firstauthorID224650


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