Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Methylmalonic aciduria cblA is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MMAA gene.
| 1. |
Dobson CM et al. (2002) Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. 
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| 2. |
Mahoney MJ et al. (1975) Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.
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| 3. |
Gravel RA et al. (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.
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| 4. |
Wilcken B et al. (1977) Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.
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| 5. |
Ampola MG et al. (1975) Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
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| 6. |
Rosenberg LE et al. (1969) Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts.
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| 7. |
Rosenberg LE et al. (1968) Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.
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| 8. |
Rosenberg LE et al. (1968) Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.
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| 9. |
Matsui SM et al. (1983) The natural history of the inherited methylmalonic acidemias.
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| 10. |
OMIM.ORG article Omim 251100
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