Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Methylmalonic aciduria cblB is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MMAB gene.
| 1. |
Dobson CM et al. (2002) Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. 
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| 2. |
Jorge-Finnigan A et al. (2010) Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
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| 3. |
Brasil S et al. (2015) Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
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| 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.
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| 5. |
OMIM.ORG article Omim 251110
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