Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease

Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization of vitamin B(12) (B(12)) lead to hematological and neurological manifestations. The cblC disease (cobalamin complementation type C) is an autosomal recessive disorder caused by mutations and epi-mutation...

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Detalles Bibliográficos
Autores principales: Esser, Anna J., Mukherjee, Srijan, Dereven’kov, Ilia A., Makarov, Sergei V., Jacobsen, Donald W., Spiekerkoetter, Ute, Hannibal, Luciana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464900/
https://www.ncbi.nlm.nih.gov/pubmed/36105582
http://dx.doi.org/10.1016/j.isci.2022.104981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464900/
https://www.ncbi.nlm.nih.gov/pubmed/36105582
http://dx.doi.org/10.1016/j.isci.2022.104981

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