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5 in total

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

Authors: S Mantagos; S Tsagaraki; E A Burgess; V Oberholzer; T Palmer; J Sacks; S Baibas; T Valaes
Journal: Arch Dis Child Date: 1978-03 Impact factor: 3.791

2. Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

Authors: J Jaeken; H Devlieger; C Bachmann; J Van Aerde; L Corbeel; E Eggermont
Journal: Eur J Pediatr Date: 1982-09 Impact factor: 3.183

3. Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.

Authors: J W McReynolds; B Crowley; M J Mahoney; L E Rosenberg
Journal: Am J Hum Genet Date: 1981-05 Impact factor: 11.025

4. Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.

Authors: R Hoshide; T Matsuura; Y Haraguchi; F Endo; M Yoshinaga; I Matsuda
Journal: J Clin Invest Date: 1993-05 Impact factor: 14.808

5. Genetic analysis of carbamyl phosphate synthetase I deficiency.

Authors: E R Fearon; R L Mallonee; J A Phillips; W E O'Brien; S W Brusilow; M W Adcock; L T Kirby
Journal: Hum Genet Date: 1985 Impact factor: 4.132

5 in total