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., ...More

Journal of inherited metabolic disease, vol.38, no.5, pp.957-67, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 5
  • Publication Date: 2015
  • Doi Number: 10.1007/s10545-014-9803-7
  • Journal Name: Journal of inherited metabolic disease
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.957-67

Abstract

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.