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