Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

Journal of Inherited Metabolic Disease

Volumn 26, Issue 6, 2003, Pages 543-557

  Olpin, S E ^a   Afifi, A ^a   Clark, S ^a   Manning, N J ^a   Bonham, J R ^a   Dalton, A ^a   Leonard, J V ^b   Land, J M ^c   Andresen, B S ^f   Morris, A A ^e   Muntoni, F ^d   Turnbull, D ^g   Pourfarzam, M ^e   Rahman, S ^b   Pollitt, R J ^a  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c National Hospital   (United Kingdom)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

^e ROYAL VICTORIA INFIRMARY   (United Kingdom)

^f AARHUS UNIVERSITY   (Denmark)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE; CARNITINE PALMITOYLTRANSFERASE; FATTY ACID; MUTANT PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; DNA POLYMORPHISM; ENERGY METABOLISM; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; GENE INTERACTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CORRELATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HUMAN CELL; INFANT; MALE; MUTATIONAL ANALYSIS; MYOPATHY; PHENOTYPE; SEX DIFFERENCE; SYMPTOM; THERMOSTABILITY;

ADOLESCENT; ADULT; AMP DEAMINASE; CARNITINE O-PALMITOYLTRANSFERASE; CELL LINE; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MUTATION; OXIDATION-REDUCTION; PALMITATES; POLYMORPHISM, GENETIC; TEMPERATURE;

EID: 10744227202     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025947930752     Document Type: Article

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