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Abnormal cobalamin metabolism in a megaloblastic child with homocystinuria, cystathioninuria and methylmalonic aciduria

โœ Scribed by J. C. Linnell; B. Miranda; H. R. Bhatt; S. B. Dowton; H. L. Levy


Publisher
Springer
Year
1983
Tongue
English
Weight
264 KB
Volume
6
Category
Article
ISSN
0141-8955

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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