Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abn...
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Niemann–Pick disease type C1 (NPC1) is a rare, prematurely fatal lysosomal storage disorder which exhibits highly variable severity and disease progression as well as a wide-ranging age of onset, from perinatal stages to adulthood. This heterogeneity has made it difficult to obtain prompt diagnosis and to predict disease course. In addition, small...
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Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
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TN_cdi_doaj_primary_oai_doaj_org_article_ca15cd7d85e544589362b1541d47b189
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ca15cd7d85e544589362b1541d47b189
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-022-06112-y
