A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 569-577

  Briones, P ^a,d   Vilaseca, M A ^a,b   Ribes, A ^a   Vernet, A ^b   Lluch, M ^a   Cusi, V ^b   Huckriede, A ^c   Agsteribbe, E ^c  

^a CSIC   (Spain)

^b HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; CARBOXYLIC ACID; HEAT SHOCK PROTEIN 60; LACTIC ACID; MITOCHONDRIAL ENZYME; OXOACID; PYRUVATE DEHYDROGENASE COMPLEX;

ARTICLE; CASE REPORT; CELL NUCLEUS; CELL ULTRASTRUCTURE; CITRIC ACID CYCLE; CONTROLLED STUDY; DEATH; ENZYME ACTIVITY; ENZYME DEFICIENCY; FACIES; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERAMMONEMIA; INFANT; KETOACIDOSIS; LACTIC ACIDEMIA; METABOLIC ACIDOSIS; MITOCHONDRION; MUSCLE HYPOTONIA; NEWBORN; PRESCHOOL CHILD; PROTEIN ASSEMBLY; PROTEIN FOLDING; RESPIRATORY CHAIN;

AMINO ACIDS; BLOTTING, WESTERN; CHROMATOGRAPHY, ION EXCHANGE; COENZYMES; ENZYMES; FATAL OUTCOME; FEMALE; FIBROBLASTS; HEAT-SHOCK PROTEINS; HUMANS; INFANT; METABOLISM, INBORN ERRORS; MITOCHONDRIA, LIVER; MITOCHONDRIAL ENCEPHALOMYOPATHIES;

EID: 0030750011     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005303008439     Document Type: Article

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