Literature DB >> 4721585

[Hereditary ornithine-carbamyl-transferase deficiency with qualitative enzyme abnormality. Report of a form with neonatal revelation and fatal course in a boy].

J M Saudubray, L Cathelineau, C Charpentier, J Boisse, C Allaneau, H Le Bont, B Lesage.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1973        PMID： 4721585

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


× No keyword cloud information.
  6 in total

1.  Peritoneal dialysis and exchange transfusion in a neonate with argininosuccinic aciduria.

Authors:  B Francois; G Cornu; R de Meyer
Journal:  Arch Dis Child       Date:  1976-03       Impact factor: 3.791

2.  Hyperammonemia through deficiency of ornithine carbamyl transferase.

Authors:  J P Farriaux; J L Dhondt; L Cathelineau; J Ratel; G Fontaine
Journal:  Z Kinderheilkd       Date:  1974

3.  Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.

Authors:  C van der Heiden; H D Bakker; J Desplanque; M Brink; P K de Bree; S K Wadman
Journal:  Eur J Pediatr       Date:  1978-07-19       Impact factor: 3.183

4.  Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.

Authors:  B E Kendall; D P Kingsley; J V Leonard; S Lingam; V G Oberholzer
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-01       Impact factor: 10.154

5.  Late onset ornithine carbamoyl transferase deficiency in males.

Authors:  E Drogari; J V Leonard
Journal:  Arch Dis Child       Date:  1988-11       Impact factor: 3.791

6.  Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.

Authors:  A Zimmermann; C Bachmann; G Schubiger
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1985
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.