Methylmalonazidurie cblB
Methylmalonazidurie cblB ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MMAB-Gen hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
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. [^] |
| 4. |
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 [^] |
