Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes

Acta Paediatrica, International Journal of Paediatrics

Volumn 97, Issue 10, 2008, Pages 1420-1425

  Summar, Marshall L ^a,e   Dobbelaere, Dries ^b   Brusilow, Saul ^c   Lee, Brendan ^d  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b University Hospital Centre of Lille   (France)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Drug treatment; Hyperammonaemia; Longitudinal study; Survival; Urea cycle disorders

Indexed keywords

AMMONUL; BENZOIC ACID; BENZOIC ACID PLUS PHENYLACETIC ACID; NITROGEN; PHENYLACETIC ACID; SCAVENGER; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; COMORBIDITY; EPIDEMIOLOGICAL DATA; FEMALE; FOOD AND DRUG ADMINISTRATION; GASTROINTESTINAL SYMPTOM; HOSPITALIZATION; HUMAN; HYPERAMMONEMIA; INCIDENCE; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MORTALITY; MULTICENTER STUDY; NEUROLOGIC DISEASE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SURVIVAL; UNITED STATES; UREA CYCLE DISORDER;

ACUTE DISEASE; ADOLESCENT; AGE FACTORS; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; FEMALE; FRANCE; HUMANS; HYPERAMMONEMIA; INCIDENCE; INFANT; INFANT, NEWBORN; LONGITUDINAL STUDIES; MALE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PREVALENCE; QUALITY OF LIFE; RECURRENCE; TIME FACTORS; UNITED STATES; UREA;

EID: 51349111824     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.00952.x     Document Type: Article

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