Exome Sequencing and the Management of Neurometabolic Disorders

Peer reviewed: 
Yes, item is peer reviewed.
Scholarly level: 
Faculty/Staff
Final version published as: 

Tarailo-Graovac, M; Shyr, C.; Ross, C.J.: Horvath, G.A.; et al. Exome Sequencing and the Management of Neurometabolic Disorders. New England Journal of Medicine 2016; 374: 2246-2255. June 9, 2016. DOI: 10.1056/NEJMoa1515792 http://www.nejm.org/doi/full/10.1056/NEJMoa1515792

Date created: 
2016-05-25
Identifier: 
DOI: 10.1056/NEJMoa1515792
Keywords: 
Whole-exome sequencing
Deep phenotyping
Inborn error of metabolism
Genome-wide sequencing
Glutamic oxalo-acetic transaminase 2 deficiency
Carbonic anhydrase VA deficiency
Intellectual disabilities
Language: 
English
Document type: 
Article
Rights: 
Copyright remains with the Massachusetts Medical Society. Author/publisher agreement allows posting of article six months after publication.
Sponsor(s): 
BC Children’s Hospital Foundation
Genome BC
BC Clinical Genomics Network
Canadian Institutes of Health Research (CIHR)
British Heart Foundation
National Institute of General Medical Sciences
Leenaards Foundation
Rare Disease Initiative Zurich
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