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10 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. Genome-wide analyses identify common variants associated with macular telangiectasia type 2.

Authors: Thomas S Scerri; Anna Quaglieri; Carolyn Cai; Jana Zernant; Nori Matsunami; Lisa Baird; Lea Scheppke; Roberto Bonelli; Lawrence A Yannuzzi; Martin Friedlander; Catherine A Egan; Marcus Fruttiger; Mark Leppert; Rando Allikmets; Melanie Bahlo
Journal: Nat Genet Date: 2017-02-27 Impact factor: 38.330

3. 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

4. Sibling cases of chronic recurrent hepatocerebral disease with hypercitrullinemia.

Authors: T Tsujii; T Morita; Y Matsuyama; T Matsui; M Tamura; Y Matsuoka
Journal: Gastroenterol Jpn Date: 1976

Review 5. CPS1: Looking at an ancient enzyme in a modern light.

Authors: Matthew Nitzahn; Gerald S Lipshutz
Journal: Mol Genet Metab Date: 2020-10-10 Impact factor: 4.797

Review 6. [Biochemical and pathophysiological aspects of hyperammonaemia (author's transl)].

Authors: J Pausch; W Gerok
Journal: Klin Wochenschr Date: 1977-02-01

7. 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

8. 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

9. 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

10. Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.

Authors: N J Hoogenraad; J D Mitchell; N A Don; T M Sutherland; A C Mc Leay
Journal: Arch Dis Child Date: 1980-04 Impact factor: 3.791

10 in total