Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.-Reference-Cited by-同舟云学术

Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.

Published:1978-03-01 Issue:3 Volume:53 Page:230-234
ISSN:0003-9888
Container-title:Archives of Disease in Childhood
language:en
Short-container-title:Archives of Disease in Childhood

Author:

Mantagos S,Tsagaraki S,Burgess E A,Oberholzer V,Palmer T,Sacks J,Baibas S,Valaes T

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Reference23 articles.

1. A case of carbamyl phosphate synthetase deficiency;Arashima, S.; Matsuda, I.;Tohoku Journal of Experimental Medicine,1972

2. Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids;Batshaw, M.; Brusilow, S.; Walser, M.;New England Journal of Medicine,1975

3. Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver;Brown, Jr., G.; Cohen, P.;Journal of Biological Chemistry,1959

4. Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome;Brown, T.; Hug, G.; Lansky, L.; Bove, K.; Scheve, A.; Ryan, M.; Brown, H.; Schubert, W.K.; Partin, J.C.; Lloyd-Still, J.;New England Journal of Medicine,1976

5. Experience personelle de la pathologie hereditaire du cycle de l'uree;Formstecher, P.,1976

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3. Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency);American Journal of Medical Genetics;2004

4. Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy;Pediatric Neurology;2001-03

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