Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation

Molecular Genetics and Metabolism

Volumn 114, Issue 2, 2015, Pages 226-232

  van Karnebeek, Clara D M ^a,b,c,d   Mohammadi, Tima ^d   Tsao, Nicole ^d   Sinclair, Graham ^b,d,e   Sirrs, Sandra ^d,f   Stockler, Sylvia ^a,b,d   Marra, Carlo ^d  

^a BC CHILDREN S HOSPITAL   (Canada)

^b Treatable Intellectual Disability Endeavour   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e BC Children's and Women's Hospital   (Canada)

^f VANCOUVER GENERAL HOSPITAL   (Canada)

Author keywords

Diagnosis; Filipin staining; Global developmental delay; Inborn error of metabolism; Intellectual disability; NPC1; NPC2; Oxysterol; Screening; Treatment

Indexed keywords

FILIPIN; OXYSTEROL; STEROL;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; COHORT ANALYSIS; COST EFFECTIVENESS ANALYSIS; ECONOMIC EVALUATION; FAMILY HISTORY; FOLLOW UP; GENETIC SCREENING; HEALTH CARE COST; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MEDICAL HISTORY; NIEMANN PICK DISEASE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; QUALITY ADJUSTED LIFE YEAR; SCREENING TEST; SENSITIVITY ANALYSIS; SIMULATION; BLOOD; COMPUTER SIMULATION; COST BENEFIT ANALYSIS; DECISION SUPPORT SYSTEM; FEMALE; MALE; NIEMANN-PICK DISEASE, TYPE C; PRESCHOOL CHILD; QUALITY OF LIFE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COMPUTER SIMULATION; COST-BENEFIT ANALYSIS; DECISION SUPPORT TECHNIQUES; FEMALE; HUMANS; MALE; NIEMANN-PICK DISEASE, TYPE C; QUALITY OF LIFE; QUALITY-ADJUSTED LIFE YEARS; STEROLS;

EID: 84921718195     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.07.004     Document Type: Article

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