Late diagnosis of ornithine transcarbamylase defect in three related female patients: Polymorphic presentations

Critical Care Medicine

Volumn 30, Issue 1, 2002, Pages 241-244

  Legras, Annick ^a   Labarthe, François ^a   Maillot, François ^a   Garrigue, Marie Ange ^a   Kouatchet, Achille ^a   Ogier De Baulny, Hélène ^b  

^a CHU BRETONNEAU   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Coma; Hemodiafiltration; Hyperammonemia; Intensive care; Ornithine carbamoyltransferase deficiency; Sodium benzoate; Sodium phenylbutyrate

Indexed keywords

ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID DERIVATIVE; CARNITINE; CITRULLINE; DIAZEPAM; ORNITHINE CARBAMOYLTRANSFERASE; UREA; VALPROIC ACID;

ADULT; ANOREXIA; ARTICLE; BRAIN EDEMA; CASE REPORT; CLINICAL FEATURE; COMA; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EARLY DIAGNOSIS; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HEADACHE; HEMODIALYSIS; HUMAN; HYPERAMMONEMIA; MENTAL DISEASE; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN RESTRICTION; RESPIRATORY ALKALOSIS; UREA CYCLE; VOMITING; X CHROMOSOME LINKED DISORDER;

EID: 0036152804     PISSN: 00903493     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003246-200201000-00035     Document Type: Article

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