The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

Genetics in Medicine

Volumn 19, Issue 4, 2017, Pages 430-438

  Benjamin, Elfrida R ^a   Della Valle, Maria Cecilia ^a   Wu, Xiaoyang ^a   Katz, Evan ^a   Pruthi, Farhana ^a   Bond, Sarah ^b   Bronfin, Benjamin ^b   Williams, Hadis ^a   Yu, Julie ^a   Bichet, Daniel G ^c   Germain, Dominique P ^d   Giugliani, Roberto ^e   Hughes, Derralynn ^f   Schiffmann, Raphael ^g   Wilcox, William R ^h   Desnick, Robert J ⁱ   Kirk, John ^a   Barth, Jay ^a   Barlow, Carrolee ^a,j   Valenzano, Kenneth J ^a   Castelli, Jeff ^a   Lockhart, David J ^a,k   more..

^a Amicus Therapeutics   (United States)

^b Cambridge Biomedical   (United States)

^c HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

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

^e HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g BAYLOR RESEARCH INSTITUTE   (United States)

^h EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^j PARKINSON S INSTITUTE   (United States)

^k TranscripTx   (United States)

more..

Author keywords

enzyme replacement therapy; Fabry disease; lysosomal storage disorder; personalized medicine; pharmacological chaperone

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE; MIGALASTAT; 1 DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE A, HUMAN;

ARTICLE; ASSAY; BLOOD LEVEL; CONTROLLED STUDY; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; GENE; GLA GENE; GOOD LABORATORY PRACTICE HEK ASSAY; HEK293 CELL LINE; HUMAN; HUMAN CELL; IN VIVO STUDY; MALE; MUTATION; PHARMACOGENETICS; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PREDICTIVE VALUE; RANDOMIZED CONTROLLED TRIAL (TOPIC); SENSITIVITY AND SPECIFICITY; TREATMENT RESPONSE; VALIDATION STUDY; ANALOGS AND DERIVATIVES; BIOASSAY; CELL LINE; DRUG EFFECTS; ENZYMOLOGY; GENETICS; LEUKOCYTE;

1-DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; BIOLOGICAL ASSAY; CELL LINE; CLINICAL TRIALS, PHASE II AS TOPIC; CLINICAL TRIALS, PHASE III AS TOPIC; FABRY DISEASE; FEMALE; HEK293 CELLS; HUMANS; LEUKOCYTES; MALE; MUTATION; PREDICTIVE VALUE OF TESTS; VALIDATION STUDIES AS TOPIC;

EID: 85017174833     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.122     Document Type: Article

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