Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and...
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Scope and Contents
Contents
Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and late-infantile NCL (LINCL) is due to mutations in the TPP1 gene. Deficiency in PPT1 or TPP1 enzyme function results in lysosomal accumulati...
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Full title
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses
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TN_cdi_doaj_primary_oai_doaj_org_article_54392a7280434c58b5f33a93ccffc788
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_54392a7280434c58b5f33a93ccffc788
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-018-0798-2
