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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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Elsevier
2022-09-01
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| Schriftenreihe: | iScience |
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| Online-Zugang: | http://www.sciencedirect.com/science/article/pii/S2589004222012536 |
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