{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:24:19Z","timestamp":1787235859972,"version":"build-2736575974"},"reference-count":0,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T00:00:00Z","timestamp":1182384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>Niemann\u2013Pick disease type C (NP\u2010C) is a lipid storage disorder characterized by the accumulation of unesterified cholesterol and glycolipids in the lysosomal\/late endosomal system of certain cells in the central nervous system (CNS) and visceral organs. Clinical symptoms include progressive neurological deterioration and visceral organomegaly. Miglustat, a small iminosugar molecule approved for the treatment of Gaucher disease, reversibly inhibits glucosylceramide synthase, which catalyses the first committed step in glycosphingolipid synthesis. The physicochemical properties of miglustat allow it to cross the blood\u2013brain barrier and suggest possible benefits in lysosomal storage diseases affecting the CNS. Here, we present findings in two children with NP\u2010C, aged 14 years (patient 1) and 9 years (patient 2), treated with miglustat for 1 year. Before treatment, patient 1 presented with severe difficulties in swallowing and walking, and patient 2 with problems mostly affecting communication and social interaction. Videofluoroscopic studies in patient 1 demonstrated a substantial improvement in swallowing by month 6 of treatment, and ambulation index measurements indicated improved walking. Mini Mental\u2010State Examination (MMSE) assessments in patient 2 showed cognitive improvement by month 6, which was sustained up to month 12. Liver\/spleen volume and plasma chitotriosidase activities were stabilized in both cases. There was no weight loss during treatment. Patient 1 experienced severe but self\u2010limiting paresthesia, which was not associated with peripheral neuropathy. We conclude that miglustat can provide therapeutic benefits in CNS symptoms and allows stabilization of systemic disease in childhood\u2010onset NP\u2010C. Further follow\u2010up is crucial to determine the long\u2010term maintenance of these effects.<\/jats:p>","DOI":"10.1007\/s10545-007-0630-y","type":"journal-article","created":{"date-parts":[[2007,6,28]],"date-time":"2007-06-28T21:36:25Z","timestamp":1183066585000},"page":"826-826","source":"Crossref","is-referenced-by-count":35,"title":["Treatment of Niemann\u2013Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year"],"prefix":"10.1002","volume":"30","author":[{"given":"Y.\u2010H.","family":"Chien","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.\u2010C.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.\u2010K.","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u2010C.","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.\u2010F.","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.\u2010J.","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.\u2010L.","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan"},{"name":"Department of Pediatrics National Taiwan University Hospital 7 Chung\u2010Shan South Road Taipei 100 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,6,21]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0630-y","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0630-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:02:29Z","timestamp":1694739749000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0630-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,21]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["10.1007\/s10545-007-0630-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0630-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,21]]}}}