Methylmalonic acidaemia due to mutase apoenzyme defect: Responsive to vitamin B12 in intact fibroblasts but notin vivo

Author:

Baumgartner R.,Giardini O.,Cantani A.,Sabetta G.,Castro M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Baumgartner, E. R., Wick, H., Linnell, J. C., Gaull, G. E., Bachmann, C. and Steinmann, B. Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.Helv. Paediatr. Acta 34 (1979) 483–496

2. Cheema-Dhadli, S., Lernoff, C. C. and Halperin, M. L. Effect of 2-methylcitrate on citrate metabolism. Implications for the management of patients with propionic acidemia and methylmalonic acidemia.Pediatr. Res. 9 (1975) 905–908

3. Dreyfus, P. M. and Dubé, V. E. The rapid detection of methylmalonic acid in urine: a sensitive index of vitamin B12 deficiency.Clin. Chim. Acta 15 (1967) 525–528

4. Fenton, W. A. and Rosenberg, L. E. Genetic and biochemical analysis of human cobalamin mutants in cell culture.Annu. Rev. Genet. 12 (1978) 223–248

5. Giorgio, A. J. and Plaut, G. W. E. A method for the colorimetric determination of urinary methylmalonic acid in pernicious anemia.J. Lab. Clin. Med. 66 (1965) 667–676

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