Carnitine membrane transporter deficiency: A long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Molecular Genetics and Metabolism

Volumn 77, Issue 3, 2002, Pages 195-201

  Cederbaum, Stephen D ^a,b   Koo McCoy, Samantha ^c   Tein, Ingrid ^d   Hsu, Betty Y L ^c   Ganguly, Arupa ^c   Vilain, Eric ^a,b   Dipple, Katrina ^a,b   Cvitanovic Sojat, Ljerka ^e   Stanley, Charles ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

Author keywords

Carnitine transporter deficiency; Fatty acid oxidation defect; Systemic carnitine deficiency

Indexed keywords

CARNITINE; CARNITINE MEMBRANE TRANSPORTER; CARRIER PROTEIN; PROTEIN OCTN2; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; ORGANIC CATION TRANSPORTER; SLC22A5 PROTEIN, HUMAN;

ALLELE; ARTICLE; CARNITINE DEFICIENCY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CULTURE MEDIUM; DISEASE COURSE; DNA DETERMINATION; EXON; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; HOMOZYGOSITY; HUMAN; INFANT; LYMPHOCYTE TRANSFORMATION; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RNA SPLICING; ADOLESCENT; ADULT; CELL MEMBRANE; CHILD; GENETICS; LYMPHOCYTE; METABOLISM;

INSERTION SEQUENCES;

ADOLESCENT; ADULT; CARNITINE; CARRIER PROTEINS; CELL MEMBRANE; CHILD; CHILD, PRESCHOOL; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; LYMPHOCYTES; MALE; MEMBRANE PROTEINS; ORGANIC CATION TRANSPORT PROTEINS;

EID: 0036432303     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00169-5     Document Type: Article

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