Hereditary Orotic Aciduria: Further Biochemistry

Author:

Becroft D. M. O.,Webster D. R.,Simmonds H. A.,Fairbanks L. D.,Wilson J. D.,Phillips L. I.

Publisher

Springer US

Reference7 articles.

1. Becroft, D.M.O. and Phillips, L.I., 1965, Hereditary orotic aciduria and megaloblastic anaemia: a second case with response to uridine,Br Med J, 1: 547.

2. Becroft, D.M.O., Phillips, L.I., Webster, D.R. and Wilson, J.D., 1984, Absence of immune deficiency in hereditary orotic aciduria, N Engl J Med, 310: 1333.

3. Girot, R., Hamet, M., Perignon, J.L., Guesnu, M., Fox, R.M., Cartier, P., Durandy, A. and Griscelli, C., 1983, Cellular immune deficiency in two siblings with hereditary orotic aciduria, N Engl J Med, 308: 700.

4. Simmonds, H.A., Webster, D.R., Perrett, D., Reiter, S. and Levinsky, R.J., 1982, Formation and degradation of deoxyadenosine nucleotides in inherited adenosine deaminase deficiency. Bioscience Reports, 2:303.Simmonds, H.A., Webster, D.R., Potter, C.F. and Becroft, D.M.O., 1980

5. Purine and pyrimidine metabolism in hereditary orotic aciduria: a 15-year follow-up study and some unexpected effects of allopurinol, Eur J Clin Invest, 10:333.

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1. Pediatric Metabolic Diseases;Forensic Pathology of Infancy and Childhood;2014

2. Diagnostic value of urinary orotic acid levels: applicable separation methods;Journal of Chromatography B;2002-12

3. Störungen des Pyrimidinstoffwechsels;Hyperurikämie, Gicht und andere Störungen des Purinhaushalts;1990

4. Urinary purines, pyrimidines and nucleosides in uridine-treated orotic aciduria;Clinica Chimica Acta;1988-06

5. Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders;Journal of Inherited Metabolic Disease;1987-06

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