Fabry disease: Enzymatic screening using dried blood spots on filter paper;Dépistage de la maladie de Fabry par mesure de l'activité enzymatique de gouttes de sang séché sur papier filtre

Revue de Medecine Interne

Volumn 31, Issue SUPPL. 2, 2010, Pages

  Caudron, E ^a   Germain, D P ^b,c   Prognon, P ^a  

^a University Paris Saclay   (France)

^b RAYMOND POINCARÉ HOSPITAL   (France)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

Dried blood spot; Fabry disease; Filter paper; Screening test; galactosidase A

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FABRY DISEASE; FALSE POSITIVE RESULT; FEMALE; FILTER; FLUOROMETRY; GENOTYPE; HEMIZYGOTE; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PHOTOCHEMICAL QUENCHING; PRECIPITATION; REFERENCE VALUE; SCREENING TEST; SENSITIVITY AND SPECIFICITY;

EID: 78650741561     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/S0248-8663(10)70025-4     Document Type: Article

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