Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide stud...
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
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Kidlington: Elsevier Ltd
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Language
English
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Kidlington: Elsevier Ltd
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Summary Background The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis, and technical advances. We tested for Gaucher's disease, Pompe's disease, Fabry's disease, and Niemann-Pick disease types A and B in an anonymous pro...
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Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
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TN_cdi_proquest_miscellaneous_918933165
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_918933165
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ISSN
0140-6736
E-ISSN
1474-547X
DOI
10.1016/S0140-6736(11)61266-X
