Homozysteinurie und megaloblastäre Anämie cblE
Homozysteinurie und megaloblastäre Anämie cblE ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MTRR-Gen hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Watkins D et. al. (1988) Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. [^] |
| 2. |
Leclerc D et. al. (1996) Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. [^] |
| 3. |
Rosenblatt DS et. al. (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease). [^] |
| 4. |
Schuh S et. al. (1984) Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism. [^] |
| 5. |
Leclerc D et. al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. [^] |
| 6. |
Zavadakova P et. al. (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. [^] |
| 7. |
Zavadáková P et. al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. [^] |
| 8. |
Rosenblatt DS et. al. (1984) Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis. [^] |
| 9. |
Fowler B et. al. (1997) Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease). [^] |
