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Literature DB >> 3139931

N-acetylglutamate synthetase deficiency, a second patient.

C Bachmann¹, M Brandis, E Weissenbarth-Riedel, R Burghard, J P Colombo.

Abstract

A second patient with N-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after death.

Entities: Disease Species

Mesh：

Substances：

Year: 1988 PMID： 3139931 DOI： 10.1007/bf01799871

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

4 in total

1. Diagnosis of urea cycle disorders.

Authors: C Bachmann
Journal: Enzyme Date: 1987

2. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.

Authors: C Bachmann; S Krähenbühl; J P Colombo; G Schubiger; K H Jaggi; O Tönz
Journal: N Engl J Med Date: 1981-02-26 Impact factor: 91.245

3. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.

Authors: C Bachmann; J P Colombo; K Jaggi
Journal: Adv Exp Med Biol Date: 1982 Impact factor: 2.622

4. 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

4 in total

16 in total

1. Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.

Authors: A B Burlina; C Bachmann; B Wermuth; A Bordugo; V Ferrari; J P Colombo; F Zacchello
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

2. Late-onset form of partial N-acetylglutamate synthetase deficiency.

Authors: O N Elpeleg; J P Colombo; N Amir; C Bachmann; H Hurvitz
Journal: Eur J Pediatr Date: 1990-06 Impact factor: 3.183

3. N-acetylglutamate synthetase deficiency: clinical and laboratory observations.

Authors: A L Pandya; R Koch; F A Hommes; J C Williams
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

4. 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

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

N-acetylglutamate synthetase deficiency, a second patient.

1. Diagnosis of urea cycle disorders.

2. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.

3. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.

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

1. Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.

2. Late-onset form of partial N-acetylglutamate synthetase deficiency.

3. N-acetylglutamate synthetase deficiency: clinical and laboratory observations.

4. 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.

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

Review 6. N-acetylglutamate synthase: structure, function and defects.

7. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.

Review 8. Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

9. Hyperammonaemia as a cause of psychosis in an adolescent.

Review 10. N-acetylglutamate and its changing role through evolution.