Cross-sectional multicenter study of patients with urea cycle disorders in the United States

Molecular Genetics and Metabolism

Volumn 94, Issue 4, 2008, Pages 397-402

  Tuchman, Mendel ^a   Lee, Brendan ^b   Lichter Konecki, Uta ^a   Summar, Marshall L ^c   Yudkoff, Marc ^d   Cederbaum, Stephen D ^e   Kerr, Douglas S ^f   Diaz, George A ^g   Seashore, Margaretta R ^h   Lee, Hye Seung ⁱ   McCarter, Robert J ^a   Krischer, Jeffrey P ⁱ   Batshaw, Mark L ^a  

^a GEORGE WASHINGTON UNIVERSITY   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c VANDERBILT UNIVERSITY   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f CASE WESTERN RESERVE UNIVERSITY   (United States)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^h YALE UNIVERSITY   (United States)

ⁱ UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Clinical research; Hyperammonemia; Inborn errors of metabolism; Rare diseases network; Urea Cycle Disorders Consortium

Indexed keywords

AMMONIA; ARGININE; ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID; CITRULLINE;

ACIDURIA; ADOLESCENT; ADULT; AGED; AMINO ACID BLOOD LEVEL; ARTICLE; CHILD; CITRULLINEMIA; CLINICAL FEATURE; CLINICAL TRIAL; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME DEFICIENCY; ETHNICITY; FEMALE; HUMAN; HYPERORNITHINEMIA; INFANT; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; NEWBORN; PRIORITY JOURNAL; PROTEIN RESTRICTION; UNITED STATES; UREA CYCLE DISORDER;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS; CHILD; CHILD, PRESCHOOL; CITRULLINEMIA; CROSS-SECTIONAL STUDIES; ETHNIC GROUPS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; RARE DISEASES; UNITED STATES; UREA;

EID: 46749144467     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.05.004     Document Type: Article

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