Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

Journal of the Neurological Sciences

Volumn 266, Issue 1-2, 2008, Pages 97-103

  Corti, S ^a   Bordoni, A ^a   Ronchi, D ^a   Musumeci, O ^b   Aguennouz, M ^b   Toscano, A ^b   Lamperti, C ^a   Bresolin, N ^a,c   Comi, G P ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c SCIENTIFIC INSTITUTE   (Italy)

Author keywords

Carnitine palmitoyltransferase II; CPT2; Fatty acid oxidation; Genotype phenotype; Mutation; Skeletal muscle

Indexed keywords

AMINO ACID; ARGININE; ASPARTIC ACID; CARNITINE PALMITOYLTRANSFERASE; GLYCINE; TRYPTOPHAN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CARNITINE PALMITYLTRANSFERASE II DEFICIENCY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME DEFICIENCY; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; STOP CODON;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CARNITINE O-PALMITOYLTRANSFERASE; CHILD; COHORT STUDIES; DNA; EXONS; FATTY ACIDS; FEMALE; GENE FREQUENCY; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOGLOBINURIA; NEUROMUSCULAR DISEASES; OXIDATION-REDUCTION; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 38849097724     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.09.015     Document Type: Article

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