Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease

Summary: Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization of vitamin B12 (B12) lead to hematological and neurological manifestations. The cblC disease (cobalamin complementation type C) is an autosomal recessive disorder caused by mutations and epi-mut...

Descripció completa

Dades bibliogràfiques

Autors principals:	Anna J. Esser, Srijan Mukherjee, Ilia A. Dereven’kov, Sergei V. Makarov, Donald W. Jacobsen, Ute Spiekerkoetter, Luciana Hannibal
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2022-09-01
Col·lecció:	iScience
Matèries:	biochemistry biological sciences enzymology health sciences
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2589004222012536
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!