{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(1)"],"submitter":["Pineda M"],"pubmed_abstract":["<h4>Objective</h4>Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. Miglustat is indicated for the treatment of progressive neurological manifestations in both adults and children. Since approval in 2009 there has been a vast growth in clinical experience with miglustat. The effectiveness of miglustat has been assessed using a range of measures.<h4>Methods</h4>Comprehensive review of published data from studies of cellular neuropathological markers and structural neurological indices in the brain, clinical impairment/disability, specific clinical neurological manifestations, and patient survival.<h4>Results</h4>Cranial diffusion tensor imaging and magnetic resonance spectro"],"journal":["Orphanet journal of rare diseases"],"pagination":["140"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6094874"],"repository":["biostudies-literature"],"pubmed_title":["Miglustat in Niemann-Pick disease type C patients: a review."],"pmcid":["PMC6094874"],"pubmed_authors":["Pineda M","Walterfang M","Patterson MC"],"additional_accession":[]},"is_claimable":false,"name":"Miglustat in Niemann-Pick disease type C patients: a review.","description":"<h4>Objective</h4>Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. Miglustat is indicated for the treatment of progressive neurological manifestations in both adults and children. Since approval in 2009 there has been a vast growth in clinical experience with miglustat. The effectiveness of miglustat has been assessed using a range of measures.<h4>Methods</h4>Comprehensive review of published data from studies of cellular neuropathological markers and structural neurological indices in the brain, clinical impairment/disability, specific clinical neurological manifestations, and patient survival.<h4>Results</h4>Cranial diffusion tensor imaging and magnetic resonance spectro","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Aug","modification":"2026-07-16T01:41:35.507Z","creation":"2019-03-26T23:52:17Z"},"accession":"S-EPMC6094874","cross_references":{"pubmed":["30111334"],"doi":["10.1186/s13023-018-0844-0"]}}