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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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Váldodahkkit: Anna J. Esser, Srijan Mukherjee, Ilia A. Dereven’kov, Sergei V. Makarov, Donald W. Jacobsen, Ute Spiekerkoetter, Luciana Hannibal
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Elsevier 2022-09-01
Ráidu:iScience
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Liŋkkat:http://www.sciencedirect.com/science/article/pii/S2589004222012536
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