Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 9, 2014, Pages 994-1002

  Deutsch, Eric C ^a,b   Oglesbee, Devin ^c   Greeley, Nathaniel R ^b   Lynch, David R ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN;

ADULT; ARTICLE; CELL LEVEL; CHEEK; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST ACCURACY STUDY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FEMALE; FRIEDREICH ATAXIA; FXN GENE; HUMAN; IMMUNOASSAY; INTERMETHOD COMPARISON; LATERAL FLOW IMMUNOASSAY; LONGITUDINAL STUDY; MALE; POINT MUTATION; PREDICTIVE VALUE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SENSITIVITY AND SPECIFICITY;

MITOCHONDRIAL DISORDERS; MOVEMENT DISORDERS; PAEDIATRIC;

ADULT; BIOLOGICAL MARKERS; FEMALE; FRIEDREICH ATAXIA; HETEROZYGOTE; HUMANS; IMMUNOASSAY; IRON-BINDING PROTEINS; MALE; MIDDLE AGED; MOUTH MUCOSA; PREDICTIVE VALUE OF TESTS; ROC CURVE; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

EID: 84905593161     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-306788     Document Type: Article

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