The differential diagnosis of dicarboxylic aciduria
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF03047374
Reference6 articles.
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2. Duran, M., de Klerk, J. B. G., van Pelt, J., Wadman, S. K., Scholte, H. R., Beekman, R. P. and Jennekens, F. G. I. The analysis of plasma and urinary organic acids during prolonged fasting differentiates between systemic carnitine deficiency and a defect of fatty acid oxidation.J. Inher. Metab. Dis. 6, Suppl. 2 (1983) 121–122
3. Gregersen, N., Lauritzen, R. and Rasmussen, K. Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.Clin. Chim. Acta 70 (1976) 417–425
4. Gregersen, N., Wintzensen, H., Kølvraa, S., Christensen, E., Christensen, M. F., Brandt, N. J. and Rasmussen, K. C6–C10-Dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.Pediatr. Res. 16 (1982) 861–868
5. Karpati, G., Carpenter, S., Engel, A. G., Watters, G., Alan, J., Rothman, S., Klassen, G. and Marner, O. A. The syndrome of systemic carnitine deficiency. Clinical, morphological, biochemical, and pathophysiologic features.Neurology (Minneap.) 25 (1975) 16–24
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