Molecular basis of hepatic carnitine palmitoyltransferase I deficiency

Journal of Clinical Investigation

Volumn 102, Issue 3, 1998, Pages 527-531

  Ijlst, Lodewijk ^a   Mandel, Hanna ^b   Oostheim, Wendy ^a   Ruiter, Jos P N ^a   Gutman, Alisa ^c   Wanders, Ronald J A ^a,d  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RAMBAM MEDICAL CENTER   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Carnitine palmitoyl transferase; Fatty acid; Gene expression; Hereditary disease; Mendelian disorder

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11Q; CHROMOSOME 22Q; CLINICAL FEATURE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FIBROBLAST; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 0032145885     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI2927     Document Type: Article

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