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.

Tarih
2015
Yazar
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.
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/107912
https://doi.org/10.1007/s10545-014-9803-7
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