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.

Huemer, M.; Buerer, C.; Jesina, P.; Kozich, V.; Landolt, M.; Suormala, T.; Fowler, B.; Augoustides-Savvopoulou, P.; Blair, E.; Brennerova, K.; Broomfield, A.; De Meirleir, L.; Gokcay, Gülden; Hennermann, J.; Jardine, P.; Koch, J.; Lorenzl, S.; Lotz-Havla, A.; Noss, J.; Parini, R.; Peters, H.; Plecko, B.; Ramos, F.; Schlune, A.; Tsiakas, K.; Tansek, M.; Baumgartner, M.

doi:10.1007/s10545-014-9803-7

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.

Atıf İçin Kopyala

Huemer M., Buerer C., Jesina P., Kozich V., Landolt M. A., Suormala T., ...Daha Fazla

Journal of inherited metabolic disease, cilt.38, sa.5, ss.957-67, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 38 Sayı: 5
Basım Tarihi: 2015
Doi Numarası: 10.1007/s10545-014-9803-7
Dergi Adı: Journal of inherited metabolic disease
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.957-67
İstanbul Üniversitesi Adresli: Evet

Özet

Background 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.