(Q44446087)

3 December 2017

title

Mutation analysis in patients with N-acetylglutamate synthase deficiency (English)

1 reference

N-Acetylglutamate synthase deficiency

3 December 2017

main subject

0 references

1 reference

3 January 2024

1

Johannes Häberle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12754705

3 January 2024

5

Barbara Plecko

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12754705

3 January 2024

author name string

Eva Schmidt

2

1 reference

3 December 2017

Silke Pauli

3

1 reference

3 December 2017

Joachim Gerhard Kreuder

4

1 reference

3 December 2017

Axel Galler

6

1 reference

3 December 2017

Benedicht Wermuth

7

1 reference

3 December 2017

Erik Harms

8

1 reference

3 December 2017

Hans Georg Koch

9

1 reference

3 December 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12754705

3 January 2024

publication date

1 June 2003

1 reference

full work available at URL

3 December 2017

https://doi.org/10.1002/humu.10216

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12754705

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.10216

3 January 2024

1 reference

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.10216

3 January 2024

1 reference

3 January 2024

1 reference

3 December 2017

volume

21

1 reference

3 December 2017

issue

6

1 reference

3 December 2017

page(s)

593-597

1 reference

A new yeast metabolon involving at least the two first enzymes of arginine biosynthesis: acetylglutamate synthase activity requires complex formation with acetylglutamate kinase

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

Cloning and expression of the human N-acetylglutamate synthase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

Computational method to predict mitochondrially imported proteins and their targeting sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

7 January 2021

N-acetylglutamate synthetase deficiency, a second patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

7 January 2021

Cleavage-site motifs in mitochondrial targeting peptides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

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.10216

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

7 January 2021

Carbamyl glutamate prevents the potentiation of ammonia toxicity by sodium benzoate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10216

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.10216

7 January 2021

N-Acetylglutamate synthetase: enzyme assay in human liver

9

1 reference

3 January 2024

Identifiers

DOI

10.1002/HUMU.10216

1 reference

3 December 2017

1 reference