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.
- Fowler, B.
- Huemer, M.
- Augoustides-Savvopoulou, P.
- Suormala, T.
- Buerer, C.
- Lorenzl, S.
- Lotz-Havla, A. S.
- Noss, J.
- Parini, R.
- Peters, H.
- Plecko, B.
- Ramos, F. J.
- Schlune, A.
- Tsiakas, K.
- Tansek, M. Zerjav
- Baumgartner, M. R.
- Gokcay, Gülden Fatma
- Jesina, P.
- Kozich, V.
- Landolt, M. A.
- Koch, J.
- Jardine, P.
- Hennermann, J.
- De Meirleir, L.
- Broomfield, A.
- Brennerova, K.
- Blair, E.
Publication date
January 2015
DOI Publisher
Springer Science and Business Media LLC Journal
Journal of Inherited Metabolic DiseaseAbstract
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
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