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Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

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    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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