(Q45966285)

English

Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

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scholarly article

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

N-Acetylglutamate synthase deficiency

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author name string

Peter Gessler

1

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

Peter Buchal

2

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

Hans U Schwenk

3

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

Bendicht Wermuth

4

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

publication date

17 June 2009

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

169

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

2

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

197-199

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

N-Acetylglutamate synthetase: enzyme assay in human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in patients with N-acetylglutamate synthase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treating urea cycle defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative pathway therapy for urea cycle disorders: twenty years later

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of a naturally occurring cofactor of carbamyl phosphate biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19533169

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-009-1006-0

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19533169

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