Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence

Neurology

Volumn 49, Issue 3, 1997, Pages 833-837

  Miyajima, Hiroaki ^a   Orii, K E ^b   Shindo, Y ^b   Hashimoto, T ^b   Shinka, T ^c   Kuhara, T ^c   Matsumoto, I ^c   Shimizu, H ^a   Kaneko, E ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; CARBOHYDRATE; CARBOXYLIC ACID; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CREATINE KINASE; DICARBOXYLIC ACID; ENOYL COENZYME A HYDRATASE; LACTATE DEHYDROGENASE; MYOGLOBIN; PROTEIN;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; FATTY ACID OXIDATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; MITOCHONDRION; MYOGLOBINURIA; PHYSICAL EXAMINATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RECURRENT DISEASE;

EID: 0030850541     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.3.833     Document Type: Article

References (21)

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