N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy

Annals of Neurology

Volumn 52, Issue 6, 2002, Pages 845-849

  Elpeleg, Orly ^a   Shaag, Avraham ^a   Ben Shalom, Efrat ^a   Schmid, Tal ^a   Bachmann, Claude ^b  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A; CARBAMOYL PHOSPHATE SYNTHASE; CARBAMYLGLUTAMATE; CARBOXYLIC ACID; CITRULLINE; GLUTAMATE ACETYLTRANSFERASE; GLUTAMIC ACID; GLUTAMIC ACID DERIVATIVE; INSULIN; N ACETYLGLUTAMIC ACID; OROTIC ACID; PHENYLACETATE SODIUM; PHENYLACETIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

ACIDURIA; AMINOACIDEMIA; AMINOACIDURIA; ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ENZYMATIC ASSAY; ENZYME DEFICIENCY; GENE IDENTIFICATION; GENETIC ANALYSIS; HEMODIALYSIS; HUMAN; HYPERAMMONEMIA; MALE; MUTATION; NEWBORN; PARENTERAL NUTRITION; PRIORITY JOURNAL; TREATMENT OUTCOME; UREA CYCLE;

ACETYLTRANSFERASES; AMINO ACID SEQUENCE; AMINO-ACID N-ACETYLTRANSFERASE; ANIMALS; BRAIN DISEASES, METABOLIC, INBORN; CHILD, PRESCHOOL; FEMALE; GLUTAMATES; HUMANS; HYPERAMMONEMIA; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0036894166     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10406     Document Type: Article

References (13)

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