Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage...
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, an...
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Full title
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4024120
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4024120
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-9-59
