Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Methylmalonazidurie cblA ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MMAA-Gen hervorgerufen wird.
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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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Mahoney MJ et al. (1975) Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.
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Gravel RA et al. (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.
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Wilcken B et al. (1977) Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.
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Ampola MG et al. (1975) Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
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Rosenberg LE et al. (1969) Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts.
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Rosenberg LE et al. (1968) Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.
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Rosenberg LE et al. (1968) Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.
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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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