Methylmalonazidurie cblB ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MMAB-Gen hervorgerufen wird.
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Dobson CM et al. (2002) Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. |
2. |
Jorge-Finnigan A et al. (2010) Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. |
3. |
Brasil S et al. (2015) Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. |
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Fenton WA et al. (1981) The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts. |
5. |
OMIM.ORG article Omim 251110 |