A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

Mitochondrion

Volumn 13, Issue 1, 2013, Pages 36-43

  Rodenburg, R J T ^a   Schoonderwoerd, G C ^b   Tiranti, V ^c   Taylor, R W ^d   Rotig A ^e   Valente, L ^c   Invernizzi, F ^c   Chretien, D ^e   He, L ^d,e   Backx, G P B M ^a   Janssen, K J G M ^a   Chinnery, P F ^d   Smeets, H J ^f   de Coo, I F ^b   van den Heuvel, L P ^a,g  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f MAASTRICHT UNIVERSITY   (Netherlands)

^g UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Diagnosis; Enzyme activity; Fibroblasts; Mitochondrial disease; Muscle; Respiratory chain

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PYRUVATE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ANIMAL TISSUE; ARTICLE; COMPLEX I DEFICIENCY; COMPLEX II DEFICIENCY; COMPLEX V DEFICIENCY; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST ACCURACY STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME SUBSTRATE COMPLEX; FIBROBLAST; GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTERMETHOD COMPARISON; MOUSE; MUSCLE BIOPSY; NONHUMAN; OXIDATIVE PHOSPHORYLATION; PREDICTIVE VALUE; PRIORITY JOURNAL; REPRODUCIBILITY; RESPIRATORY CHAIN; SURF1 GENE;

ADENOSINE TRIPHOSPHATASES; ANIMALS; CARRIER PROTEINS; CLINICAL LABORATORY TECHNIQUES; DIAGNOSTIC TESTS, ROUTINE; ELECTRON TRANSPORT; HUMANS; LABORATORY PROFICIENCY TESTING; MEMBRANE PROTEINS; MICE; MITOCHONDRIA; MITOCHONDRIAL DISEASES;

EID: 84873257120     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2012.11.004     Document Type: Article

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