Oral vitamin B12treatment of cobalamin-responsive methylmalonic aciduria
β Scribed by T. K. Ninan; H. Thom; G. Russell
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 166 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0141-8955
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Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin-bound cobalamin (holo-TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/CD320, the gene for the receptor for cellular uptake of holo-TC, identified a hom
Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B 12 metabolism. The aim of this work was to identify the mutational spectrum in a cohort of cblC-affected patients and the analysis of the cellular oxidative