Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype-Phenotype analysis of 50 patients

Journal of the Neurological Sciences

Volumn 338, Issue 1-2, 2014, Pages 107-111

  Joshi, Pushpa Raj ^a   Deschauer, Marcus ^a   Zierz, Stephan ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

CPT II; Exercise; Genotype Phenotype; Mutation; Myoglobinuria; PCR

Indexed keywords

MALONYL COENZYME A; TYLOXAPOL;

ADOLESCENT; ADULT; ADULT DISEASE; ARTICLE; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL EXAMINATION; DIET RESTRICTION; ENZYME ACTIVITY; EXERCISE; FEMALE; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MYOGLOBINURIA; MYOPATHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

CPT II; EXERCISE; GENOTYPE-PHENOTYPE; MUTATION; MYOGLOBINURIA; PCR;

ADOLESCENT; ADULT; CARNITINE O-PALMITOYLTRANSFERASE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MUSCLES; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 84896738502     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.12.026     Document Type: Article

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