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Expert Rev Mol Diagn. 2017 Apr;17(4):307-309. doi: 10.1080/14737159.2017.1293527. Epub 2017 Feb 20.

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.

Author information

1
a Institute of Physiology and Biochemistry, Faculty of Biology , The University of Belgrade , Belgrade , Serbia.
2
b BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, and Department of Medical Genetics , University of British Columbia , Vancouver , Canada.
3
c BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, Department of Pediatrics , University of British Columbia , Vancouver , Canada.
4
d Department of Pediatrics , Emma Children's Hospital, Academic Medical Centre , Amsterdam , The Netherlands.

KEYWORDS:

Central nervous system; diagnosis; exome/genome sequencing; inborn errors of metabolism; precision medicine

PMID:
28277145
DOI:
10.1080/14737159.2017.1293527
[Indexed for MEDLINE]

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