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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...

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Xehetasun bibliografikoak
Egile Nagusiak: Anna J. Esser, Srijan Mukherjee, Ilia A. Dereven’kov, Sergei V. Makarov, Donald W. Jacobsen, Ute Spiekerkoetter, Luciana Hannibal
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2022-09-01
Saila:iScience
Gaiak:
Sarrera elektronikoa:http://www.sciencedirect.com/science/article/pii/S2589004222012536
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