Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatally
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01805802
Reference20 articles.
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2. Blass, J. P., Schulman, J. D., Young, D. S. and Hom, E. An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis.J. Clin. Invest. 51 (1972) 1845–1851
3. Bohm, N., Uy, J., Kiessling, M. and Lehnert, W. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.Eur. J. Pediatr. 139 (1982) 60–65
4. Bradford, M. M. A rapid and sensitive method for the quantitation of protein using the principal of protein dye binding.Anal. Biochem. 72 (1978) 248–254
5. Coudé, F. X., Ogier, H., Charpentier, C., Thomassin, G., Checoury, A., Amédée-Manesme, O., Saudubray, J. M. and Frézal, J. Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder.Hum. Genet. 59 (1981) 263–265
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