Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: Implications for diagnosis and therapy

Journal of Neurology Neurosurgery and Psychiatry

Volumn 62, Issue 2, 1997, Pages 169-176

  Schaefer, Jochen ^a   Jackson, Sandra ^a   Taroni, Franco ^b   Swift, Peter ^c   Turnbull, Douglass M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c LEICESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

Carnitine palmitoyltransferases; Fatty acid oxidation defects; Fibroblast permeabilisation; Medium chain triglyceride therapy

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; MEDIUM CHAIN TRIACYLGLYCEROL;

ACIDURIA; ADULT; ARTICLE; BLOOD CELL; CASE REPORT; CELL MEMBRANE PERMEABILITY; DIETARY INTAKE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ENZYME SPECIFICITY; FATTY ACID OXIDATION; FATTY ACID TRANSPORT; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; INFANT; MALE; METABOLISM; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST;

EID: 0031040157     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.62.2.169     Document Type: Article

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