A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism
Author:
Funder
Recruitment Program of Global Experts in China with start up funds
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0731-5.pdf
Reference30 articles.
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2. Vernon HJ. Inborn errors of metabolism: advances in diagnosis and therapy. JAMA Pediatr. 2015;169:778–82.
3. El-Hattab AW. Inborn errors of metabolism. Clin Perinatol. 2015;42:413–39.
4. Sharma S, Prasad AN. Inborn errors of metabolism and epilepsy: current understanding, diagnosis, and Treatment Approaches. Int J Mol Sci. 2017;18.
5. Sandlers Y. The future perspective: metabolomics in laboratory medicine for inborn errors of metabolism. Transl Res. 2017;189:65–75.
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