(Q80127628)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

ChEBI release 2020-05-28

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Hiroki Morizono

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Mendel Tuchman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

publication date

1 August 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

754-759

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

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

28 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Purification and properties of acetyl-CoA:L-glutamate N-acetyltransferase from human liver

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

N-acetylglutamate synthetase deficiency, a second patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Cloning and expression of the human N-acetylglutamate synthase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Identification, cloning and expression of the mouse N-acetylglutamate synthase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Late-onset form of partial N-acetylglutamate synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Menstrual cycle and gonadal steroid effects on symptomatic hyperammonaemia of urea-cycle-based and idiopathic aetiologies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Diagnosis of N‐acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense‐mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Mutation analysis in patients with N-acetylglutamate synthase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Genetic approach to prenatal diagnosis in urea cycle defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

N ‐acetylglutamate synthetase deficiency: Clinical and laboratory observations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Expression, crystallization and preliminary crystallographic studies of a novel bifunctional N-acetylglutamate synthase/kinase from Xanthomonas campestris homologous to vertebrate N-acetylglutamate synthase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

N-Acetylglutamate Synthetase from Rat-Liver Mitochondria. Partial Purification and Catalytic Properties

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

The mysteries of nitrogen balance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20518

7 January 2021

Identifiers

DOI

10.1002/HUMU.20518

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17421020%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference