Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity-Reference-Cited by-同舟云学术

Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity

Published:1986-06 Issue:2 Volume:9 Page:175-185
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kodama H.,Ohtake A.,Mori M.,Okabe I.,Tatibana M.,Kamoshita S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799456

Reference29 articles.

1. Briand, P., Francois, B., Rabier, D. and Cathelineau, L. Ornithine transcarbamylase deficiencies in human males: kinetic and immunochemical classification.Biochim. Biophys. Acta 704 (1982) 100–106

2. Briand, P., Miura, S., Mori, M., Cathelineau, L., Kamoun, P. and Tatibana, M. Cell-free synthesis and transport of precursors of mutant ornithine carbamyltransferases into mitochondria.Biochim. Biophys. Acta 760 (1983) 389–397

3. Cathelineau, L., Saudubray, J. M. and Polonovski, C. The effects of pH on the kinetics of a mutant enzyme.Clin. Chim. Acta 41 (1972) 305–312

4. Glasgow, A. M., Kraegel, J. H. and Schulman, J. D. Studies of the cause and treatment of hyperammonemia in females with ornithine transcarbamylase deficiency.Pediatrics 62 (1978) 30–37

5. Heiden, C. V. D., Desplanque, J. and Bakker, H. D. Some kinetic properties of liver ornithine carbamyltransferase (OTC) in a patient with OTC deficiency.Clin. Chim. Acta 80 (1977) 519–527

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