Methylmalonazidurie cblA ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MMAA-Gen hervorgerufen wird.
2. |
Mahoney MJ et al. (1975) Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis. |
3. |
Gravel RA et al. (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. |
4. |
Wilcken B et al. (1977) Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency. |
5. |
Ampola MG et al. (1975) Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia. |
6. |
Rosenberg LE et al. (1969) Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts. |
7. |
Rosenberg LE et al. (1968) Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia. |
8. |
Rosenberg LE et al. (1968) Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency. |
9. |
Matsui SM et al. (1983) The natural history of the inherited methylmalonic acidemias. |
10. |
OMIM.ORG article Omim 251100 |