Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

Published 2015 View Full Article

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Title
Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening
Authors
Keywords
lysosomal storage disorders, epidemiology, diagnosis, newborn screening, high-risk screening, carrier screening
Journal
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 29, Issue 2, Pages 145-157
Publisher
Elsevier BV
Online
2014-08-27
DOI
10.1016/j.beem.2014.08.004

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