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Literature DB >> 8739970

Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency.

G Kuchler¹, D Rabier, F Poggi-Travert, D Meyer-Gast, J Bardet, V Drouin, M Cadoudal, J M Saudubray.

Abstract

Entities: Chemical Disease

Mesh：

Substances：

Year: 1996 PMID： 8739970 DOI： 10.1007/bf01799434

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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9 in total

1. Catalytic rôle of of glutamate derivatives in citrulline biosynthesis.

Authors: S GRISOLIA; P P COHEN
Journal: J Biol Chem Date: 1953-10 Impact factor: 5.157

2. Deacylation and transacetylation of acetyl glutamate and acetyl ornithine in rat liver.

Authors: A Reglero; J Rivas; J Mendelson; R Wallace; S Grisolia
Journal: FEBS Lett Date: 1977-09-01 Impact factor: 4.124

3. Conditions affecting the colorimetry of orotic acid and orotidine in urine.

Authors: M L Harris; V G Oberholzer
Journal: Clin Chem Date: 1980-03 Impact factor: 8.327

4. Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.

Authors: D Rabier; A Benoit; F Petit; A Chekoury; J P Bonnefont; J M Saudubray; P Kamoun
Journal: Clin Chim Acta Date: 1989-12-29 Impact factor: 3.786

5. N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.

Authors: G Schubiger; C Bachmann; P Barben; J P Colombo; O Tönz; D Schüpbach
Journal: Eur J Pediatr Date: 1991-03 Impact factor: 3.183

6. Ammonia intoxication in rats: protection by N-carbamoyl-L-glutamate plus L-arginine.

Authors: S Kim; W K Paik; P P Cohen
Journal: Proc Natl Acad Sci U S A Date: 1972-12 Impact factor: 11.205

7. N-Acetylglutamate synthetase: enzyme assay in human liver.

Authors: J P Colombo; S Krähenbühl; C Backmann; P Aeberhard
Journal: J Clin Chem Clin Biochem Date: 1982-05

8. Acute and chronic effects of carbamyl glutamate on blood urea and ammonia.

Authors: J E O'Connor; A Jordá; S Grisolía
Journal: Eur J Pediatr Date: 1985-01 Impact factor: 3.183

9. A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.

Authors: N Guffon; C Vianey-Saban; J Bourgeois; D Rabier; J P Colombo; P Guibaud
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

9 in total

1. N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.

Authors: Sandra K Heibel; Nicholas Ah Mew; Ljubica Caldovic; Yevgeny Daikhin; Marc Yudkoff; Mendel Tuchman
Journal: Hum Mutat Date: 2011-09-09 Impact factor: 4.878

2. Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

Authors: Dashuang Shi; Gengxiang Zhao; Nicholas Ah Mew; Mendel Tuchman
Journal: Mol Genet Metab Date: 2016-12-08 Impact factor: 4.797

3. Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder.

Authors: James Vivian Leonard; Martin Peter Ward Platt; Andrew Alan Myles Morris
Journal: Eur J Pediatr Date: 2007-04-14 Impact factor: 3.183

Review 4. N-acetylglutamate synthase: structure, function and defects.

Authors: Ljubica Caldovic; Nicholas Ah Mew; Dashuang Shi; Hiroki Morizono; Marc Yudkoff; Mendel Tuchman
Journal: Mol Genet Metab Date: 2010-02-26 Impact factor: 4.797

5. Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

Authors: Nicholas Ah Mew; Robert McCarter; Yevgeny Daikhin; Uta Lichter-Konecki; Ilana Nissim; Marc Yudkoff; Mendel Tuchman
Journal: J Pediatr Date: 2014-05-29 Impact factor: 4.406