Heterogeneity of coenzyme Q 10 deficiency: Patient study and literature review

Archives of Neurology

Volumn 69, Issue 8, 2012, Pages 978-983

  Emmanuele, Valentina ^a,b   López, Luis C ^a,c   Berardo, Andres ^a   Naini, Ali ^a   Tadesse, Saba ^a   Wen, Bing ^a   D'Agostino, Erin ^a   Solomon, Martha ^a   DiMauro, Salvatore ^a   Quinzii, Catarina ^a   Hirano, Michio ^a  

^a NewYork Presbyterian Hospital   (United States)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF GRANADA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; UBIDECARENONE; DRUG DERIVATIVE; UBIQUINONE;

ADCK3 GENE; APRATAXIN GENE; BRAF GENE; CEREBELLAR ATAXIA; CINCA SYNDROME; CLINICAL FEATURE; COENZYME Q10 DEFICIENCY; DRUG RESPONSE; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE GENE; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MUSCLE BIOPSY; MYOPATHY; NEPHROTIC SYNDROME; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SUPPLEMENTATION; TREATMENT DURATION; ANIMAL; BIOSYNTHESIS; COHORT ANALYSIS; GENETICS;

ANIMALS; CEREBELLAR ATAXIA; COHORT STUDIES; GENETIC HETEROGENEITY; HUMANS; UBIQUINONE;

EID: 84865622739     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2012.206     Document Type: Review

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