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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |