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Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

Sandra D K Kingma1, Olaf A Bodamer2, Frits A Wijburg1

  • 1Department of Pediatrics and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

Best Practice & Research. Clinical Endocrinology & Metabolism
|May 20, 2015
PubMed

Keywords:
carrier screeningdiagnosisepidemiologyhigh-risk screeninglysosomal storage disordersnewborn screening

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