Homozysteinurie und megaloblastäre Anämie cblG ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MTR-Gen hervorgerufen wird.
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Hall CA et al. (1989) The nature of the defect in cobalamin G mutation. |
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Watkins D et al. (1989) Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. |
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Labrune P et al. (1999) Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency. |
14. |
Outteryck O et al. (2012) Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy. |
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OMIM.ORG article Omim 250940 |