Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference43 articles.
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2. Recommendations on the diagnosis and management of Niemann-Pick disease type C;Wraith;Mol. Genet. Metab.,2009
3. Niemann-Pick disease type C;Vanier;Orphanet J. Rare Dis.,2010
4. NPC-db, a Niemann-Pick type C disease gene variation database;Runz;Hum. Mutat.,2008
5. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease;Rodríguez-Pascau;Hum. Mutat.,2009
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