Literature DB >> 7173263

Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

J Jaeken, H Devlieger, C Bachmann, J Van Aerde, L Corbeel, E Eggermont.   

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Year:  1982        PMID： 7173263     DOI： 10.1007/bf00442085

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  20 in total

1.  Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids.

Authors:  M Batshaw; S Brusilow; M Walser
Journal:  N Engl J Med       Date:  1975-05-22       Impact factor: 91.245

2.  Neonatal death due to carbamyl phosphate synthetase deficiency.

Authors:  R G Wilson; P L Masters
Journal:  Aust Paediatr J       Date:  1977-06

3.  Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.

Authors:  S Packman; M J Mahoney; K Tanaka; Y E Hsia
Journal:  J Pediatr       Date:  1978-05       Impact factor: 4.406

4.  A case of carbamyl phosphate synthetase deficiency.

Authors:  S Arashima; I Matsuda
Journal:  Tohoku J Exp Med       Date:  1972-06       Impact factor: 1.848

5.  Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.

Authors:  F A Hommes; C J De Groot; C W Wilmink; J H Jonxis
Journal:  Arch Dis Child       Date:  1969-12       Impact factor: 3.791

6.  Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.

Authors:  J M Freeman; J F Nicholson; R T Schimke; L P Rowland; S Carter
Journal:  Arch Neurol       Date:  1970-11

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.  Treatment of hyperammonemic coma caused by inborn errors of urea synthesis.

Authors:  M L Batshaw; S W Brusilow
Journal:  J Pediatr       Date:  1980-12       Impact factor: 4.406

9.  Transient hyperammonemia of the preterm infant.

Authors:  R A Ballard; B Vinocur; J W Reynolds; R P Wennberg; A Merritt; L Sweetman; W L Nyhan
Journal:  N Engl J Med       Date:  1978-10-26       Impact factor: 91.245

10.  Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.

Authors:  J P Farriaux; C Ponte; R J Pollitt; P Lequien; P Formstecher; J L Dhondt
Journal:  Acta Paediatr Scand       Date:  1977-07
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