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

Author:

Linnell J. C.,Miranda B.,Bhatt H. R.,Dowton S. B.,Levy H. L.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Baumgartner, R., Maurer, R., Wick, H., Egli, N. and Steinmann, B. Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. 1. Case report and histopathology.Helv. Paediatr. Acta 34 (1979) 465–482

2. Bhatt, H. R., Green, A. and Linnell, J. C. A sensitive micromethod for the routine estimation of methylmalonic acid in body fluids and tissues using thin-layer chromatography.Clin. Chim. Acta 118 (1982) 311–321

3. Dillon, M. J., England, J. M., Gompertz, D., Goodey, P. A., Grant, D. B., Hussein, H. A.-A., Linnell, J. C., Matthews, D. M., Mudd, S. H., Seakins, J. W. T., Uhlendorf, B. W. and Wise, I. J. Mental retardation, megaloblastic anaemia, methylmalonic aciduria, and abnormal homocysteine metabolism due to an error in B12 metabolism.Clin. Sci. Mol. Med. 47 (1974) 43–61

4. Levy, H. L., Mudd, S. H., Schulman, J. D., Dreyfus, P. M. and Abeles, R. H. A derangement in B12 metabolism associated with homocystinaemia, cystathioninaemia, hypomethioninaemia, and methylmalonic aciduria.Am. J. Med. 48 (1970) 390–397

5. Linnell, J. C., Hoffbrand, A. V., Hussein, H.A-A., Wise, I. J. and Matthews, D. M. Tissue distribution of coenzyme and other forms of vitamin B12 in control subjects and patients with pernicious anaemia.Clin. Sci. Mol. Med. 46 (1974) 163–172

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