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. A. , Suormala T., ...Daha Fazla

Journal of inherited metabolic disease, cilt.38, ss.957-67, 2015 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 38 Konu: 5
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s10545-014-9803-7
  • Dergi Adı: Journal of inherited metabolic disease
  • Sayfa Sayıları: ss.957-67

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.