N-acetylglutamate synthase deficiency: An insight into the genetics, epidemiology, pathophysiology, and treatment

Application of Clinical Genetics

Volumn 4, Issue , 2011, Pages 127-135

  Ah Mew, Nicholas ^a   Caldovic, Ljubica ^a  

^a CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Hyperammonemia; N acetyl L Glutamate; N acetylglutamate synthase; N carbamyl L Glutamate; Urea cycle; Urea cycle disorder

Indexed keywords

AGENTS AFFECTING PROTEIN METABOLISM; GLUTAMATE ACETYLTRANSFERASE; MESSENGER RNA; N CARBAMYLGLUTAMATE; UNCLASSIFIED DRUG;

AMMONIA BLOOD LEVEL; BRONCHUS SECRETION; DRUG DOSE REDUCTION; DRUG RESPONSE; FEVER; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HYPERAMMONEMIA; MUTATIONAL ANALYSIS; MUTATOR GENE; N ACETYLGLUTAMATE SYNTHASE GENE; NAGS DEFICIENCY; NONHUMAN; PATHOPHYSIOLOGY; PROTEIN EXPRESSION; RESTLESSNESS; REVIEW; SIDE EFFECT; SWEATING; TACHYCARDIA; TREATMENT OUTCOME; UREA CYCLE;

EID: 84862094363     PISSN: 1178704X     EISSN: None     Source Type: Journal    
DOI: 10.2147/TACG.S12702     Document Type: Review

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