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Int. J. Neonatal Screen. 2017, 3(2), 6; https://doi.org/10.3390/ijns3020006

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

1
Reference Laboratory for Neonatal Screening, Centre for Infectious Diseases Research, Diagnostics and Screening, National Institute for Public Health and the Environment, 3720 BA Bilthoven, The Netherlands
2
Department of Clinical Chemistry, IJsselland Hospital, 2906 ZC Capelle ad IJssel, The Netherlands
3
Departments of Chemistry and Biochemistry, University of Washington, Seattle, WD 98195, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Ralph Fingerhut
Received: 15 November 2016 / Revised: 17 January 2017 / Accepted: 16 February 2017 / Published: 29 March 2017
(This article belongs to the Special Issue Next Generation Sequencing in Newborn Screening)
Full-Text   |   PDF [217 KB, uploaded 29 March 2017]

Abstract

Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide. View Full-Text
Keywords: lysosomal storage disease; tandem mass spectrometry; fluorimetry; neonatal screening; newborn screening; enzyme replacement therapy; hematopoietic stem cell transfer; pilot screening program; biomarker lysosomal storage disease; tandem mass spectrometry; fluorimetry; neonatal screening; newborn screening; enzyme replacement therapy; hematopoietic stem cell transfer; pilot screening program; biomarker
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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Schielen, P.C.J.I.; Kemper, E.A.; Gelb, M.H. Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs. Int. J. Neonatal Screen. 2017, 3, 6.

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