Citrin deficiency, a perplexing global disorder

Molecular Genetics and Metabolism

Volumn 96, Issue 1, 2009, Pages 44-49

  Dimmock, David ^a   Maranda, Bruno ^b   Dionisi Vici, Carlo ^c   Wang, Jing ^a   Kleppe, Soledad ^d   Fiermonte, Giuseppe ^e   Bai, Renkui ^a   Hainline, Bryan ^f   Hamosh, Ada ^g   O'Brien, William E ^a   Scaglia, Fernando ^a   Wong, Lee Jun ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b LAVAL UNIVERSITY   (Canada)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d CEMIC   (Argentina)

^e UNIVERSITY OF BARI   (Italy)

^f INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Bipolar disorder; Citrullinemia; CTLN2; Hepatic steatosis; Intrahepatic cholestasis; Newborn screening; NICCD; Therapy

Indexed keywords

ARGININOSUCCINATE SYNTHASE; CITRULLINE;

ADULT; ARTICLE; CHILD; CITRIN DEFICIENCY; CITRULLINEMIA; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; ETHNICITY; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INFANT; MALE; MUTATIONAL ANALYSIS; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PATIENT REFERRAL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DETERMINATION; SCREENING TEST; SEQUENCE ANALYSIS; SKIN FIBROBLAST; WESTERN BLOTTING;

AMINO ACID TRANSPORT DISORDERS, INBORN; AMINO ACIDS; ARGININOSUCCINATE SYNTHASE; CELLS, CULTURED; CHILD, PRESCHOOL; CITRULLINE; CONTINENTAL POPULATION GROUPS; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 57449098390     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.10.007     Document Type: Article

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