Results 1 -
2
of
2
for
Cobalamin C disease
Did you mean calamine C disease?
- ... Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Gueant JL, Morrone A. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations. ...
- ... the conversion of vitamin B12 (also known as cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or ... NESI nuclear export signal-interacting protein probable lysosomal cobalamin transporter Tests of LMBRD1 PubMed LMBR1 DOMAIN-CONTAINING ...