The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2885-2890

  Dimmock, David P ^a,b   Trapane, Pamela ^b   Feigenbaum, Annette ^c   Keegan, Catherine E ^d   Cederbaum, Stephen ^e   Gibson, James ^f   Gambello, Michael J ^g   Vaux, Keith ^h   Ward, Patricia ^a   Rice, Gregory M ⁱ   Wolff, Jon A ⁱ   O'Brien, William E ^a   Fang, Ping ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f DELL INC   (United States)

^g UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^h UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

ⁱ UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

ASS1; DNA diagnosis; Drug therapy; Liver failure; Newborn screening; Pregnancy

Indexed keywords

ARGININOSUCCINATE SYNTHASE; CITRULLINE; DNA;

ADOLESCENT; AMINO ACID BLOOD LEVEL; AMINOACIDEMIA; ARTICLE; CHILD; CITRULLINEMIA; CLINICAL ARTICLE; COGNITIVE DEFECT; DNA SEQUENCE; ENZYME ANALYSIS; FEMALE; GENE LOCUS; GENE MUTATION; HUMAN; HYPERAMMONEMIA; INFANT; LIVER FAILURE; MALE; NEWBORN; NEWBORN SCREENING; PATIENT MONITORING; POLYMERASE CHAIN REACTION; PREGNANCY; PRIORITY JOURNAL; PROTEIN RESTRICTION; SCREENING TEST; UREA CYCLE;

ADOLESCENT; ARGININOSUCCINATE SYNTHASE; CHILD; CHILD, PRESCHOOL; CITRULLINE; CITRULLINEMIA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; PREGNANCY; PREGNANCY COMPLICATIONS;

EID: 56049119171     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32527     Document Type: Article

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