Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency

Molecular Genetics and Metabolism

Volumn 86, Issue 3, 2005, Pages 337-343

  Korman, Stanley H ^a   Waterham, Hans R ^b   Gutman, Alisa ^a   Jakobs, Cornelis ^c   Wanders, Ronald J A ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

3 Hydroxyglutaric acid; Acylcarnitines; Carnitine palmitoyltransferase I deficiency; CPT1A gene mutation; Dicarboxylic aciduria; Dodecanedioic; Glutaric acid; Mitochondrial fatty acid oxidation; Tandem MS; Urine organic acids

Indexed keywords

3 HYDROXYGLUTARIC ACID; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE I; DICARBOXYLIC ACID DERIVATIVE; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; BRAIN DISEASE; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; CASE REPORT; CONSANGUINITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; EXCRETION; FATTY ACID OXIDATION; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; KETOACIDOSIS; LIVER DISEASE; MALE; MEDICAL EXAMINATION; MITOCHONDRION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEROXISOME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN TRANSPORT; URINE;

ADULT; CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; CHILD, PRESCHOOL; DICARBOXYLIC ACIDS; FEMALE; GLUTARATES; HUMANS; INFANT; MALE; MUTATION; PALMITATES;

EID: 27644519635     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.022     Document Type: Article

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