Matches in SemOpenAlex for { <https://semopenalex.org/work/W74903869> ?p ?o ?g. }
- W74903869 endingPage "83" @default.
- W74903869 startingPage "83" @default.
- W74903869 abstract "Niemann-Pick disease type C (NPC) is a rare neurovisceral lipid storage disorder resulting from autosomal recessively inherited loss-of-function mutations in either Npc1 or Npc2 . This disrupts intracellular lipid transport, leading to the accumulation of lipid products in the late endosomes and lysosomes. Affecting both children and adults, it exhibits a less rapid disease course in older patients, where it is characterised by slow cognitive decline, neuropsychiatric illness, ataxia and dystonia. As NPC is heterogeneous in presentation, it is often misdiagnosed as other movement or psychiatric disorders, highlighting the need for better awareness of this disease among clinicians. NPC is a progressive disorder and the only currently available disease-specific drug for its treatment is miglustat, which has shown positive outcomes in clinical studies. While other medications have been tested in animal models with encouraging results, they have yet to be trialled in human subjects." @default.
- W74903869 created "2016-06-24" @default.
- W74903869 creator A5059823463 @default.
- W74903869 creator A5077268112 @default.
- W74903869 date "2010-01-01" @default.
- W74903869 modified "2023-10-18" @default.
- W74903869 title "Niemann-Pick Disease Type C in Adulthood - A Psychiatric and Neurological Disorder" @default.
- W74903869 cites W1485152739 @default.
- W74903869 cites W1578752381 @default.
- W74903869 cites W1590883722 @default.
- W74903869 cites W1974081722 @default.
- W74903869 cites W1974316422 @default.
- W74903869 cites W1976252335 @default.
- W74903869 cites W1976704599 @default.
- W74903869 cites W1977279472 @default.
- W74903869 cites W1977451676 @default.
- W74903869 cites W1978140170 @default.
- W74903869 cites W1980020885 @default.
- W74903869 cites W1993121378 @default.
- W74903869 cites W2001126918 @default.
- W74903869 cites W2002646402 @default.
- W74903869 cites W2003075298 @default.
- W74903869 cites W2005256936 @default.
- W74903869 cites W2008762509 @default.
- W74903869 cites W2027570554 @default.
- W74903869 cites W2029397111 @default.
- W74903869 cites W2037821728 @default.
- W74903869 cites W2039202215 @default.
- W74903869 cites W2040793688 @default.
- W74903869 cites W2045625322 @default.
- W74903869 cites W2048340520 @default.
- W74903869 cites W2053203314 @default.
- W74903869 cites W2053741228 @default.
- W74903869 cites W2060312708 @default.
- W74903869 cites W2064978465 @default.
- W74903869 cites W2065408118 @default.
- W74903869 cites W2069203896 @default.
- W74903869 cites W2081340046 @default.
- W74903869 cites W2081415721 @default.
- W74903869 cites W2081896091 @default.
- W74903869 cites W2082092386 @default.
- W74903869 cites W2089031114 @default.
- W74903869 cites W2093722439 @default.
- W74903869 cites W2096221379 @default.
- W74903869 cites W2102083136 @default.
- W74903869 cites W2107076295 @default.
- W74903869 cites W2108660588 @default.
- W74903869 cites W2117566834 @default.
- W74903869 cites W2119636073 @default.
- W74903869 cites W2122945914 @default.
- W74903869 cites W2127795391 @default.
- W74903869 cites W2134893181 @default.
- W74903869 cites W2136977521 @default.
- W74903869 cites W2137234884 @default.
- W74903869 cites W2137391475 @default.
- W74903869 cites W2138786573 @default.
- W74903869 cites W2147586670 @default.
- W74903869 cites W2151302138 @default.
- W74903869 cites W2157900484 @default.
- W74903869 cites W2160081421 @default.
- W74903869 cites W2168661403 @default.
- W74903869 cites W2181057149 @default.
- W74903869 doi "https://doi.org/10.17925/enr.2010.05.01.83" @default.
- W74903869 hasPublicationYear "2010" @default.
- W74903869 type Work @default.
- W74903869 sameAs 74903869 @default.
- W74903869 citedByCount "2" @default.
- W74903869 countsByYear W749038692013 @default.
- W74903869 countsByYear W749038692014 @default.
- W74903869 crossrefType "journal-article" @default.
- W74903869 hasAuthorship W74903869A5059823463 @default.
- W74903869 hasAuthorship W74903869A5077268112 @default.
- W74903869 hasBestOaLocation W749038691 @default.
- W74903869 hasConcept C102747710 @default.
- W74903869 hasConcept C118552586 @default.
- W74903869 hasConcept C126322002 @default.
- W74903869 hasConcept C170493617 @default.
- W74903869 hasConcept C187212893 @default.
- W74903869 hasConcept C2778552423 @default.
- W74903869 hasConcept C2778559928 @default.
- W74903869 hasConcept C2779134260 @default.
- W74903869 hasConcept C2779489717 @default.
- W74903869 hasConcept C2780635549 @default.
- W74903869 hasConcept C2780906641 @default.
- W74903869 hasConcept C71924100 @default.
- W74903869 hasConceptScore W74903869C102747710 @default.
- W74903869 hasConceptScore W74903869C118552586 @default.
- W74903869 hasConceptScore W74903869C126322002 @default.
- W74903869 hasConceptScore W74903869C170493617 @default.
- W74903869 hasConceptScore W74903869C187212893 @default.
- W74903869 hasConceptScore W74903869C2778552423 @default.
- W74903869 hasConceptScore W74903869C2778559928 @default.
- W74903869 hasConceptScore W74903869C2779134260 @default.
- W74903869 hasConceptScore W74903869C2779489717 @default.
- W74903869 hasConceptScore W74903869C2780635549 @default.
- W74903869 hasConceptScore W74903869C2780906641 @default.
- W74903869 hasConceptScore W74903869C71924100 @default.
- W74903869 hasIssue "1" @default.