Screening for organic acidurias and amino acidopathies in newborns and children
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02312520
Reference45 articles.
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2. Brandt, N. J., Brandt, S., Rasmussen, K. and SchØnheyder, F. Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism.Br. Med. J. 4 (1974) 344
3. Chalmers, R. A., Healy, M. J. R., Lawson, A. M., Hart, J. T. and Watts, R. W. E. Urinary organic acids in man. III. Quantitative ranges and patterns of excretion in a normal population.Clin. Chem. 22 (1976b) 1292–1298
4. Chalmers, R. A., Healy, M. J. R., Lawson, A. M. and Walts, R. W. E. Urinary organic acids in man. II. Effects of individual variation and diet on the urinary excretion of acidic metabolites.Clin. Chem. 22 (1976a) 1288–1291
5. Chalmers, R. A. and Lawson, A. M. Identification of 5-hydroxyhexanoic acid in the urine of twin siblings with a Reye's-like syndrome associated with dicarboxylic aciduria and hypoglycaemia and with similarity to Jamaican vomiting sickness.Biomed. Mass Spec. 6 (1979) 444–446
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