{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:12:27Z","timestamp":1787242347088,"version":"build-2736575974"},"reference-count":27,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2017,8,31]],"date-time":"2017-08-31T00:00:00Z","timestamp":1504137600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["202834"],"award-info":[{"award-number":["202834"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Niemann-Pick Research Foundation"},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Brian and Caris Chan Family Foundation"},{"DOI":"10.13039\/501100000288","name":"Royal Society","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000288","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["wellcomeopenresearch.org"],"crossmark-restriction":false},"short-container-title":["Wellcome Open Res"],"abstract":"<ns4:p>\n                    In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the\n                    <ns4:italic>NPC1<\/ns4:italic>\n                    or\n                    <ns4:italic>NPC2<\/ns4:italic>\n                    genes. Liver disease is a common feature presenting either acutely as cholestatic jaundice in the neonatal period, or in later life as elevated liver enzymes indicative of liver dysfunction. Recently, an imbalance in bile acid synthesis in a mouse model of NPC disease was linked to suppression of the P450 detoxification system and was corrected by UDCA treatment. UDCA (3\u03b1, 7\u03b2-dihydroxy-5\u03b2-cholanic acid), a hydrophilic bile acid, is used to treat various cholestatic disorders. In this report we summarise the findings from four independent cases of NPC, three with abnormal liver enzyme levels at baseline, that were subsequently treated with UDCA. The patients differed in age and clinical features, they all tolerated the drug well, and in those with abnormal liver function, there were significant improvements in their liver enzyme parameters.\n                  <\/ns4:p>","DOI":"10.12688\/wellcomeopenres.11854.1","type":"journal-article","created":{"date-parts":[[2017,8,31]],"date-time":"2017-08-31T09:35:25Z","timestamp":1504172125000},"page":"75","update-policy":"https:\/\/doi.org\/10.12688\/wellcomeopenres.crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases"],"prefix":"10.12688","volume":"2","author":[{"given":"William R.H.","family":"Evans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5545-630X","authenticated-orcid":false,"given":"Elena-Raluca","family":"Nicoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6494-7613","authenticated-orcid":false,"given":"Raymond Y.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Movsesyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7614-0403","authenticated-orcid":false,"given":"Frances M.","family":"Platt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2560","published-online":{"date-parts":[[2017,8,31]]},"reference":[{"key":"ref-1","doi-asserted-by":"crossref","first-page":"330-44","DOI":"10.1016\/j.ymgme.2012.03.012","article-title":"Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.","volume":"106","author":"M Patterson","year":"2012","journal-title":"Mol Genet Metab."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1186\/s13023-014-0140-6","article-title":"Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.","volume":"9","author":"H Jahnova","year":"2014","journal-title":"Orphanet J Rare Dis."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"41-48","DOI":"10.1038\/gim.2015.25","article-title":"High 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status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.21956\/wellcomeopenres.12809.r26287, Maria D Ledesma, Center for Molecular Biology 'Severo Ochoa', Autonomous University of Madrid-Spanish National Research Council, \u00a0Madrid, Spain, 26 Sep 2017, version 1, indexed","URL":"https:\/\/wellcomeopenresearch.org\/articles\/2-75\/v1#referee-response-26287","order":0,"name":"referee-response-26287","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.21956\/wellcomeopenres.12809.r26787, Jayesh Sheth, FRIGE\u2019s Institute of Human Genetics, FRIGE House, Gujarat, India, 19 Oct 2017, version 1, indexed","URL":"https:\/\/wellcomeopenresearch.org\/articles\/2-75\/v1#referee-response-26787","order":1,"name":"referee-response-26787","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"This work was supported by the Wellcome Trust [202834] to FMP; The Brian and Caris Chan Family Foundation to RW; Action Medical Research to ERN; Royal Society Wolfson Research Merit Award to FMP; Niemann-Pick Research Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}