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Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin

โœ Scribed by Barshop, Bruce A. ;Wolff, Jon ;Nyhan, William L. ;Yu, Alice ;Prodanos, Christina ;Jones, Gilbert ;Sweetman, Lawrence ;Leslie, Jack ;Holm, Jan ;Green, Ralph ;Jacobsen, Donald W. ;Cooper, Bernard A. ;Rosenblatt, David


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
730 KB
Volume
35
Category
Article
ISSN
0148-7299

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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