FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2043965507> ?p ?o ?g. }

• W2043965507 endingPage "137" @default.
• W2043965507 startingPage "129" @default.
• W2043965507 abstract "Abstract Niemann‐Pick disease type C (NP‐C) is a rare inherited neurovisceral disease characterized by progressive neurological manifestations. Oral miglustat was first approved for the treatment of children and adults with NP‐C in Europe in 2009. There are still relatively few published data on the long‐term efficacy and safety of miglustat in patients with NP‐C in clinical practice. We report the effects of up to 6 years of treatment with miglustat 100 mg t.i.d. in five children. Overall, 3/5 patients displayed progressive dysphagia before starting miglustat, and 4/5 showed marked cognitive and/or motor impairment. The mean age at treatment start was 11.6 years, and the median (range) duration of therapy so far is 4 (4.1 to 6.1) years. No treatment dose alterations were required, but therapy was interrupted for 1–3 months at least once in all patients due to supply issues. Swallowing function was stabilised during miglustat therapy, with no significant increase in Han dysphagia scale or aspiration‐penetration index scores among four evaluable patients ( p > 0.05). Scores on the mini‐mental state examination indicated an improvement in cognitive function during the first 3–6 months of miglustat therapy, followed by stabilisation up to 5 years. Ambulatory function remained stable for at least the first 2 years of treatment in most patients, but there was a trend towards deterioration thereafter, possibly related to treatment interruptions. The safety/tolerability profile of miglustat was similar to previous clinical studies, although reports of gastrointestinal disturbances were rare. Overall, miglustat appeared to stabilise key parameters of neurological disease progression." @default.
• W2043965507 created "2016-06-24" @default.
• W2043965507 creator A5001594819 @default.
• W2043965507 creator A5014562723 @default.
• W2043965507 creator A5035688680 @default.
• W2043965507 creator A5046826963 @default.
• W2043965507 creator A5057188522 @default.
• W2043965507 creator A5057254785 @default.
• W2043965507 creator A5058356650 @default.
• W2043965507 creator A5063736072 @default.
• W2043965507 creator A5068375979 @default.
• W2043965507 date "2012-04-05" @default.
• W2043965507 modified "2023-10-14" @default.
• W2043965507 title "Long‐term efficacy of miglustat in paediatric patients with Niemann‐Pick disease type C" @default.
• W2043965507 cites W1485826436 @default.
• W2043965507 cites W1967494799 @default.
• W2043965507 cites W1974316422 @default.
• W2043965507 cites W1986184447 @default.
• W2043965507 cites W1998455368 @default.
• W2043965507 cites W2012273060 @default.
• W2043965507 cites W2020520190 @default.
• W2043965507 cites W2022894760 @default.
• W2043965507 cites W2027570554 @default.
• W2043965507 cites W2037605089 @default.
• W2043965507 cites W2039202215 @default.
• W2043965507 cites W2042102113 @default.
• W2043965507 cites W2053203314 @default.
• W2043965507 cites W2064649060 @default.
• W2043965507 cites W2068262899 @default.
• W2043965507 cites W2083930723 @default.
• W2043965507 cites W2086233417 @default.
• W2043965507 cites W2107076295 @default.
• W2043965507 cites W2134893181 @default.
• W2043965507 cites W2137234884 @default.
• W2043965507 cites W2137391475 @default.
• W2043965507 cites W2147586670 @default.
• W2043965507 cites W2155503300 @default.
• W2043965507 cites W2157900484 @default.
• W2043965507 cites W2163662904 @default.
• W2043965507 doi "https://doi.org/10.1007/s10545-012-9479-9" @default.
• W2043965507 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22476655" @default.
• W2043965507 hasPublicationYear "2012" @default.
• W2043965507 type Work @default.
• W2043965507 sameAs 2043965507 @default.
• W2043965507 citedByCount "34" @default.
• W2043965507 countsByYear W20439655072013 @default.
• W2043965507 countsByYear W20439655072014 @default.
• W2043965507 countsByYear W20439655072015 @default.
• W2043965507 countsByYear W20439655072016 @default.
• W2043965507 countsByYear W20439655072017 @default.
• W2043965507 countsByYear W20439655072018 @default.
• W2043965507 countsByYear W20439655072019 @default.
• W2043965507 countsByYear W20439655072020 @default.
• W2043965507 countsByYear W20439655072023 @default.
• W2043965507 crossrefType "journal-article" @default.
• W2043965507 hasAuthorship W2043965507A5001594819 @default.
• W2043965507 hasAuthorship W2043965507A5014562723 @default.
• W2043965507 hasAuthorship W2043965507A5035688680 @default.
• W2043965507 hasAuthorship W2043965507A5046826963 @default.
• W2043965507 hasAuthorship W2043965507A5057188522 @default.
• W2043965507 hasAuthorship W2043965507A5057254785 @default.
• W2043965507 hasAuthorship W2043965507A5058356650 @default.
• W2043965507 hasAuthorship W2043965507A5063736072 @default.
• W2043965507 hasAuthorship W2043965507A5068375979 @default.
• W2043965507 hasBestOaLocation W20439655072 @default.
• W2043965507 hasConcept C112497637 @default.
• W2043965507 hasConcept C126322002 @default.
• W2043965507 hasConcept C141071460 @default.
• W2043965507 hasConcept C187212893 @default.
• W2043965507 hasConcept C197934379 @default.
• W2043965507 hasConcept C2778375690 @default.
• W2043965507 hasConcept C2779134260 @default.
• W2043965507 hasConcept C2780596822 @default.
• W2043965507 hasConcept C2780635549 @default.
• W2043965507 hasConcept C71924100 @default.
• W2043965507 hasConceptScore W2043965507C112497637 @default.
• W2043965507 hasConceptScore W2043965507C126322002 @default.
• W2043965507 hasConceptScore W2043965507C141071460 @default.
• W2043965507 hasConceptScore W2043965507C187212893 @default.
• W2043965507 hasConceptScore W2043965507C197934379 @default.
• W2043965507 hasConceptScore W2043965507C2778375690 @default.
• W2043965507 hasConceptScore W2043965507C2779134260 @default.
• W2043965507 hasConceptScore W2043965507C2780596822 @default.
• W2043965507 hasConceptScore W2043965507C2780635549 @default.
• W2043965507 hasConceptScore W2043965507C71924100 @default.
• W2043965507 hasIssue "1" @default.
• W2043965507 hasLocation W20439655071 @default.
• W2043965507 hasLocation W20439655072 @default.
• W2043965507 hasLocation W20439655073 @default.
• W2043965507 hasOpenAccess W2043965507 @default.
• W2043965507 hasPrimaryLocation W20439655071 @default.
• W2043965507 hasRelatedWork W2087016115 @default.
• W2043965507 hasRelatedWork W2108436789 @default.
• W2043965507 hasRelatedWork W2305775430 @default.
• W2043965507 hasRelatedWork W2349164817 @default.
• W2043965507 hasRelatedWork W2385118346 @default.
• W2043965507 hasRelatedWork W2465571689 @default.
• W2043965507 hasRelatedWork W2989091870 @default.

• next