Carnitine-acylcarnitine carrier deficiency: Identification of the molecular defect in a patient

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 262-267

  Huizing, M ^a   Wendel, U ^b   Ruitenbeek, W ^a   Iacobazzi, V ^c   IJlst, L ^d   Veenhuizen, P ^a   Savelkoul, P ^a   Van Den Heuvel, L P ^a   Smeitink, J A M ^a   Wanders, R J A ^d   Trijbels, J M F ^a   Palmieri, F ^c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITY OF BARI   (Italy)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; CARRIER PROTEIN; COMPLEMENTARY DNA; DICARBOXYLIC ACID; LONG CHAIN FATTY ACID;

ACIDURIA; AMINO ACID SEQUENCE; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; FATTY ACID OXIDATION; FIBROBLAST CULTURE; GENE DELETION; HEART DISEASE; HEPATOMEGALY; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; INFANT; LIVER FUNCTION; MALE; MEMBRANE TRANSPORT; MITOCHONDRIAL MEMBRANE; MUSCLE WEAKNESS; NEWBORN; PROTEIN DEFICIENCY; SKIN FIBROBLAST;

EID: 7344249597     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005324323401     Document Type: Conference Paper

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