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FROM EXPANDED NEONATAL SCREENING TO THE POST-GENOMIC ERA.

作者信息

Camelo José Simon

机构信息

Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (USP) - Ribeirão Preto, SP, Brasil.

出版信息

Rev Paul Pediatr. 2017 Jul-Sep;35(3):240-241. doi: 10.1590/1984-0462/;2017;35;3;00017.

Abstract
摘要

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本文引用的文献

1
INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE.
Rev Paul Pediatr. 2017 Jul-Sep;35(3):258-264. doi: 10.1590/1984-0462/;2017;35;3;00012. Epub 2017 Jul 31.
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Policy Making in Newborn Screening Needs a Structured and Transparent Approach.
Front Public Health. 2017 Mar 21;5:53. doi: 10.3389/fpubh.2017.00053. eCollection 2017.
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Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
J Inherit Metab Dis. 2017 Mar;40(2):209-218. doi: 10.1007/s10545-016-0004-4. Epub 2017 Jan 4.
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N C Med J. 2013 Nov-Dec;74(6):514-7.
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Genomics in newborn screening.
J Pediatr. 2014 Jan;164(1):14-9. doi: 10.1016/j.jpeds.2013.07.028. Epub 2013 Aug 27.
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Newborn screening: toward a uniform screening panel and system--executive summary.
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