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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’-deoxyadenosylcobalamin (AdoCbl), the cofactor of methylmalonyl-CoA mutase (MMUT). We i...

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Detalles Bibliográficos
Autores principales:	Forny, Patrick, Plessl, Tanja, Frei, Caroline, Bürer, Celine, Froese, D. Sean, Baumgartner, Matthias R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2021
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9262797/ https://www.ncbi.nlm.nih.gov/pubmed/34796408 http://dx.doi.org/10.1007/s00439-021-02398-6

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