The incidence of urea cycle disorders

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 179-180

  Summar, Marshall L ^a   Koelker, Stefan ^b   Freedenberg, Debra ^c   Le Mons, Cynthia ^d   Haberle, Johannes ^e   Lee, Hye Seung ^f   Kirmse, Brian ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^d National Urea Cycle Disorders Foundation   (United States)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Ammonia; Hyperammonemia; Inborn error of metabolism; Incidence; Newborn screening; Urea cycle

Indexed keywords

ARGININOSUCCINATE SYNTHASE; LYASE; UREA; ARGININOSUCCINATE LYASE;

ARGININOSUCCINIC ACIDURIA; ARTICLE; CITRULLINEMIA; HUMAN; HYPERAMMONEMIA; INCIDENCE; MAJOR CLINICAL STUDY; NEWBORN SCREENING; PRIORITY JOURNAL; UNITED STATES; UREA CYCLE DISORDER; AMINO ACID METABOLISM, INBORN ERRORS; DEFICIENCY; EUROPE; FEMALE; GENETICS; MALE; NEWBORN; PATHOLOGY; UREA CYCLE DISORDERS, INBORN;

AMINO ACID METABOLISM, INBORN ERRORS; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; ARGININOSUCCINIC ACIDURIA; EUROPE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; UNITED STATES; UREA CYCLE DISORDERS, INBORN;

EID: 84882780128     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.008     Document Type: Article

References (2)

1. Naylor E.W. Newborn screening for urea cycle disorders. Adv. Exp. Med. Biol. 1982, 153:9-18.
2. Seminara J., Tuchman M., Krivitzky L., Krischer J., Lee H.S., Lemons C., Baumgartner M., Cederbaum S., Diaz G.A., Feigenbaum A., Gallagher R.C., Harding C.O., Kerr D.S., Lanpher B., Lee B., Lichter-Konecki U., McCandless S.E., Merritt J.L., Oster-Granite M.L., Seashore M.R., Stricker T., Summar M., Waisbren S., Yudkoff M., Batshaw M.L. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol. Genet. Metab. 2010, 100(Suppl. 1):S97-S105.