A 6-year-old boy with hyperammonaemia: Partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?

European Journal of Pediatrics

Volumn 159, Issue 12, 2000, Pages 905-907

  Broere, Daniel ^a   Van Gemert, Wim G ^a   Kneepkens, C M Frank ^a   Neele, Diana M ^a   Manoliu, Radu A ^a   Rauwerda, Jan A ^a   Van der Knaap, Marjo S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Atretic encephalocele; Hyperammonaemia; Partial N acetylglutamate synthase deficiency; Patent ductus venosus (Arantii); Portosystemic encephalopathy

Indexed keywords

BENZOIC ACID; GLUTAMATE ACETYLTRANSFERASE; GLUTAMINE; LACTULOSE;

AMMONIA BLOOD LEVEL; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; DOPPLER ECHOCARDIOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; HYPERAMMONEMIA; LABORATORY TEST; LETHARGY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS VENOSUS; PRIORITY JOURNAL; PROTEIN RESTRICTION; PROTHROMBIN TIME; SINUS VENOSUS; SOMNOLENCE; STEATOSIS; VEIN LIGATION;

EID: 0033695766     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00008367     Document Type: Article

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