Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

Neurology

Volumn 65, Issue 4, 2005, Pages 606-608

  Salviati, Leonardo ^a   Sacconi, S ^b   Murer, L ^a   Zacchello, G ^a   Franceschini, L ^a   Laverda, A M ^a   Basso, G ^a   Quinzii, C ^c   Angelini, C ^a   Hirano, M ^c   Naini, A B ^c   Navas, P ^d   DiMauro, S ^c   Montini, G ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b INSERM   (France)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d UNIVERSIDAD PABLO DE OLAVIDE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; CORTICOSTEROID; CREATINE KINASE; CREATININE; CYCLOSPORIN; DIURETIC AGENT; LACTIC ACID; NEPHRIN; PHENOBARBITAL; PODOCIN; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIDECARENONE; UBIQUINOL CYTOCHROME C REDUCTASE; UBIQUINONE DERIVATIVE;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; EVOKED VISUAL RESPONSE; FEMALE; FIBROBLAST; GLOMERULOSCLEROSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; KIDNEY BIOPSY; KIDNEY DISEASE; MALE; MUSCLE; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; PERITONEAL DIALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETINOPATHY; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SEIZURE;

EID: 23844469463     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000172859.55579.a7     Document Type: Article

References (9)

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