Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment...
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Chanarin-Dorfman syndrome (CDS) is a multisystemic autosomal recessive rare disorder. CDS is caused by variants in the abhydrolase domain containing 5 (ABHD5) encoding gene (CGI-58), which ultimately leads to excessive lipid storage, and therefore a high abundance of cellular lipid droplets (LDs). Although the molecular etiology of the disease was...
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Full title
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues
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TN_cdi_doaj_primary_oai_doaj_org_article_a52b73a0b18d430b82bfcd2ed6549887
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a52b73a0b18d430b82bfcd2ed6549887
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-025-03711-6
