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PMID: 9427158 Published · ppublish English Case Reports Journal Article

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.

Journal of inherited metabolic disease ·Vol. 20 ·No. 6 ·1997-11-00 ·Pages 839-40

Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ

Abstract

暂无摘要

MeSH Terms
Acetyltransferases/deficiency Amino-Acid N-Acetyltransferase Ammonia/blood Brain Diseases/etiology Consanguinity Fever Glutamates/therapeutic use Humans Infant Male Paraplegia/etiology
Chemicals
Glutamates N-carbamylglutamate Ammonia Acetyltransferases Amino-Acid N-Acetyltransferase NAGS protein, human
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Hinnie J
Department of Clinical Biochemistry, Glasgow Royal Infirmary, UK.
Colombo J P
Wermuth B
Dryburgh F J
Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1023/a:1005344507536
Published
1997-11-00
Pages
839-40
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1023/a:1005344507536 View journal details
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