Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Weinreb, Neal J ^a   Finegold, David N ^b   Feingold, Eleanor ^c   Zeng, Zhen ^c   Rosenbloom, Barry E ^d   Shankar, Suma P ^e   Amato, Dominick ^f  

^a University Research Foundation for Lysosomal Storage Diseases   (United States)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^c UNIVERSITY OF PITTSBURGH   (United States)

^d Tower Cancer Research Foundation ^*  (United States)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f MOUNT SINAI HOSPITAL   (Canada)

Author keywords

Bone event free survival; DS3; Gaucher bone disease; Gaucher disease; Gaucher disease therapy; Genotype; Health state transitions; Severity Score; Splenectomy; Treatment responses

Indexed keywords

ELIGLUSTAT; IMIGLUCERASE; MIGLUSTAT; TALIGLUCERASE ALFA; VELAGLUCERASE ALFA;

ADULT; ALLELE; ARTICLE; ASHKENAZI JEW; BONE DISEASE; CLINICAL EVALUATION; CONTROLLED STUDY; DISEASE SEVERITY; DISEASE SEVERITY ASSESSMENT; DISEASE SEVERITY SCORING SYSTEM; DRUG RESPONSE; FEMALE; FOLLOW UP; GAUCHER DISEASE; GENOTYPE; HEALTH STATUS; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; METHODOLOGY; PATIENT CODING; PATIENT MONITORING; SPLENECTOMY; ADOLESCENT; AGED; CHILD; GENETICS; HOMOZYGOTE; MIDDLE AGED; PATHOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALLELES; CHILD; CHILD, PRESCHOOL; FEMALE; GAUCHER DISEASE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84935848551     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0280-3     Document Type: Article

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