Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2009 1
2010 1
2012 3
2013 3
2014 1
2015 2
2016 1
2019 2
2020 3
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Niemann-Pick disease type C, juvenile neurologic onset"
Page 1
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group. Patterson MC, et al. Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8. Mol Genet Metab. 2012. PMID: 22572546
Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulati …
Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in eithe …
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Bolton SC, et al. Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. Orphanet J Rare Dis. 2022. PMID: 35164809 Free PMC article.
BACKGROUND: Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. ...The age at diagnosis and death increased with increased age of neurological s …
BACKGROUND: Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by pro …
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat.
Imanishi A, Kawazoe T, Hamada Y, Kumagai T, Tsutsui K, Sakai N, Eto K, Noguchi A, Shimizu T, Takahashi T, Han G, Mishima K, Kanbayashi T, Kondo H. Imanishi A, et al. Orphanet J Rare Dis. 2020 Sep 29;15(1):269. doi: 10.1186/s13023-020-01531-4. Orphanet J Rare Dis. 2020. PMID: 32993765 Free PMC article.
STUDY OBJECTIVES: Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. ...Some cases frequently display narcolepsy-like symptoms, including cataplexy which was repo …
STUDY OBJECTIVES: Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accum …
Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.
Ginocchio VM, D'Amico A, Bertini E, Ceravolo F, Dardis A, Verrigni D, Bembi B, Dionisi-Vici C, Deodato F. Ginocchio VM, et al. Mol Genet Metab. 2013 Nov;110(3):329-35. doi: 10.1016/j.ymgme.2013.07.019. Epub 2013 Aug 7. Mol Genet Metab. 2013. PMID: 23973268
Niemann-Pick disease type C (NPC) is a lysosomal storage disease characterized by progressive neurological degeneration. ...All disease manifestations were assessed and patients were stratified according to age at onset of …
Niemann-Pick disease type C (NPC) is a lysosomal storage disease characterized by progressive neurolog …
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.
Pineda M, Juríčková K, Karimzadeh P, Kolniková M, Malinová V, Torres J, Kolb SA. Pineda M, et al. Orphanet J Rare Dis. 2019 Jul 2;14(1):161. doi: 10.1186/s13023-019-1124-3. Orphanet J Rare Dis. 2019. PMID: 31266511 Free PMC article.
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset. ...Of the available SI tools, the Refined SI performed well in identifying patie …
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptom …
Disease and patient characteristics in NP-C patients: findings from an international disease registry.
Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M. Patterson MC, et al. Orphanet J Rare Dis. 2013 Jan 16;8:12. doi: 10.1186/1750-1172-8-12. Orphanet J Rare Dis. 2013. PMID: 23324478 Free PMC article.
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. ...Among all enrolled patients, 107 were diagnosed based on combined genetic testing and filipin s …
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressi …
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
Chamova T, Kirov A, Guergueltcheva V, Todorov T, Bojinova V, Zhelyazkova S, Samuel J, Radionova M, Sarafov S, Cherninkova S, Krastev S, Todorova A, Tournev I. Chamova T, et al. Eur Neurol. 2016;75(3-4):113-23. doi: 10.1159/000444480. Epub 2016 Feb 25. Eur Neurol. 2016. PMID: 26910362
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene. ...All patients who underwent genetic mutation analysis were compo …
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive lysosomal storage disorder c …
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.
Wraith JE, Guffon N, Rohrbach M, Hwu WL, Korenke GC, Bembi B, Luzy C, Giorgino R, Sedel F. Wraith JE, et al. Mol Genet Metab. 2009 Nov;98(3):250-4. doi: 10.1016/j.ymgme.2009.06.009. Epub 2009 Jun 23. Mol Genet Metab. 2009. PMID: 19616462
Niemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by progressive neurological deterioration. However, data on the progression of neurological manifestations, particularly across different patient …
Niemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by progressive neur …
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.
Patterson MC, Garver WS, Giugliani R, Imrie J, Jahnova H, Meaney FJ, Nadjar Y, Vanier MT, Moneuse P, Morand O, Rosenberg D, Schwierin B, Héron B. Patterson MC, et al. J Inherit Metab Dis. 2020 Sep;43(5):1060-1069. doi: 10.1002/jimd.12245. Epub 2020 May 8. J Inherit Metab Dis. 2020. PMID: 32324281 Free PMC article.
Miglustat has been indicated for the treatment of Niemann-Pick disease type C (NP-C) since 2009. The aim of this observational study was to assess the effect of miglustat on long-term survival of patients with NP-C. ...Miglustat-treated and untr …
Miglustat has been indicated for the treatment of Niemann-Pick disease type C (NP-C) since 2009. The aim …
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT. Millat G, et al. Am J Hum Genet. 2001 Nov;69(5):1013-21. doi: 10.1086/324068. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567215 Free PMC article.
In Niemann-Pick disease type C (NPC), a genetic heterogeneity with two complementation groups--NPC1, comprising > or =95% of the families, and NPC2--has been demonstrated. ...Two patients also developed a severe neurological disease wi …
In Niemann-Pick disease type C (NPC), a genetic heterogeneity with two complementation groups--NPC1, comp …
18 results