2 documents found, page 1 of 1
Clinical presentation and outcome in a series of 88 patients with the cblC defect
Fischer, S.; Huemer, M.; Baumgartner, M.; Deodato, F.; Ballhausen, D.; Boneh, A.; Burlina, A.B.; Cerone, R.; Garcia, P.; Gökçay, G.; Grünewald, S.The cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective multicentre study evaluates clinical, biochemical and genetic findings in 88 cblC patients. The questionnaire designed for the study evaluates clinical and biochemical features at both initial presentation and during follow up. Also the develo...
Molecular characterization of five patients with homocystinuria due to severe m...
Urreizti, R.; Moya-García, A. A.; Pino-Ángeles, A.; Cozar, M.; Langkilde, A.; Fanhoe, U.; Esteves, C.; Arribas, J.; Vilaseca, M.A.; Pérez-Dueñas, B.Methylenetetrahydrofolate reductase (MTHFR) plays a major role in folate metabolism. Disturbed function of the enzyme results in hyperhomocysteinemia and causes severe vascular and neurological disorders and developmental delay. Five patients suspected of having non-classical homocystinuria due to MTHFR deficiency were examined with respect to their symptoms, MTHFR enzyme activity and genotypes of the MTHFR gen...