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

European Journal of Pediatrics

Volumn 169, Issue 2, 2010, Pages 197-199

  Gessler, Peter ^a   Buchal, Peter ^b   Schwenk, Hans U ^a   Wermuth, Bendicht ^c  

^a Klinikum Klinik für Kinder und Jugendliche   (Germany)

^b Klinikum   (Germany)

^c UNIVERSITY OF BERN   (Switzerland)

Author keywords

Carbamylglutamate; Hyperammonemia; N acetylglutamate synthase; Neurodevelopment

Indexed keywords

ARGININE; BENZOIC ACID; CARBAMOYL PHOSPHATE SYNTHASE; CARGLUMIC ACID; GLUTAMATE ACETYLTRANSFERASE;

ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY STUDY; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; MALE; MOLECULAR GENETICS; NERVE CELL DIFFERENTIATION; NEWBORN; PRIORITY JOURNAL; PROTEIN RESTRICTION; TREATMENT OUTCOME; TREATMENT RESPONSE; TURKEY (REPUBLIC); UREA CYCLE;

AMINO-ACID N-ACETYLTRANSFERASE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GLUTAMATES; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; MALE; MUTATION; SIBLINGS; TIME FACTORS;

EID: 77949425527     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1006-0     Document Type: Article

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