Trifunctional enzyme deficiency adult presentation of a usually fatal β-oxidation defect

Annals of Neurology

Volumn 40, Issue 4, 1996, Pages 597-602

  Schaefer, Jochen ^a   Jackson, Sandra ^a   Dick, David J ^b   Turnbull, Douglass M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NORFOLK AND NORWICH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; ENOYL COENZYME A HYDRATASE; MULTIENZYME COMPLEX;

ADULT; ARTICLE; CARBOHYDRATE DIET; CASE REPORT; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; HUMAN; LOW FAT DIET; MALE; MYOGLOBINURIA; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RHABDOMYOLYSIS;

ADULT; AGE OF ONSET; CARNITINE O-PALMITOYLTRANSFERASE; DIET THERAPY; EXERCISE; FATTY ACIDS; HUMANS; IMMUNOBLOTTING; MALE; MITOCHONDRIA, MUSCLE; MYOGLOBINURIA; OXIDATION-REDUCTION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RHABDOMYOLYSIS;

EID: 0029907842     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400409     Document Type: Article

References (24)

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