Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

Molecular Genetics and Metabolism

Volumn 115, Issue 1, 2015, Pages 1-9

  Sayson, Bryan ^a,b,d   Popurs, Marioara Angela Moisa ^a,b   Lafek, Mirafe ^a,b   Berkow, Ruth ^b   Stockler Ipsiroglu, Sylvia ^a,b,c,d   van Karnebeek, Clara D M ^a,b,c,d,e  

^a BC CHILDREN S HOSPITAL   (Canada)

^b Treatable Intellectual Disability Endeavour in British Columbia ^*  (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e Ctr for Molec Med and Therapeut   (Canada)

Author keywords

Cost effectiveness; Diagnosis; Global developmental delay; Inborn errors of metabolism; Intellectual disability; Treatment

Indexed keywords

ALGORITHM; ARTICLE; BLOOD EXAMINATION; CLINICAL ARTICLE; CLINICAL EFFECTIVENESS; CONSULTATION; COST CONTROL; COST EFFECTIVENESS ANALYSIS; EVIDENCE BASED PRACTICE; FEMALE; GENETIC DISORDER; HUMAN; INBORN ERROR OF METABOLISM; INTELLECTUAL IMPAIRMENT; MALE; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCREENING; URINALYSIS; ADOLESCENT; CANADA; CHILD; COMPLICATION; COMPUTER ASSISTED DIAGNOSIS; COST BENEFIT ANALYSIS; DELAYED DIAGNOSIS; ECONOMICS; INTELLECTUAL DISABILITY; METABOLISM, INBORN ERRORS; MORBIDITY; PROCEDURES; TIME;

ADOLESCENT; ALGORITHMS; BRITISH COLUMBIA; CHILD; COST-BENEFIT ANALYSIS; DELAYED DIAGNOSIS; DIAGNOSIS, COMPUTER-ASSISTED; HUMANS; INTELLECTUAL DISABILITY; MALE; METABOLISM, INBORN ERRORS; MORBIDITY; PHENOTYPE; RETROSPECTIVE STUDIES; TIME FACTORS;

EID: 84933676902     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.03.001     Document Type: Article

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