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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

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  1. Article

    Open Access

    Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

    epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12 metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter...

    Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant… in Clinical Epigenetics (2022)

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  2. Article

    Open Access

    Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

    Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5...

    Patrick Forny, Tanja Plessl, Caroline Frei, Celine Bürer, D. Sean Froese… in Human Genetics (2022)

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