Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
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England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment. Although the NPC1 phenotype is heterogeneous with variable age of onset, classical NPC1 is a pediatric disorder. Currently there are no therapies approved by the FDA and therapeutics tri...
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Full title
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
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TN_cdi_doaj_primary_oai_doaj_org_article_8ae5ae9914ad4795b2ed86f8f4902c36
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8ae5ae9914ad4795b2ed86f8f4902c36
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ISSN
2050-7771
E-ISSN
2050-7771
DOI
10.1186/s40364-023-00448-x
