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Quoted phrase not found in phrase index: "Niemann-Pick disease type C, juvenile neurologic onset"
Page 1
Niemann-Pick disease type C.
Vanier MT. Vanier MT. Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Orphanet J Rare Dis. 2010. PMID: 20525256 Free PMC article. Review.
The first neurological symptoms vary with age of onset: delay in developmental motor milestones (early infantile period), gait problems, falls, clumsiness, cataplexy, school problems (late infantile and juvenile period), and ataxia not unfrequen …
The first neurological symptoms vary with age of onset: delay in developmental motor milestones (early infantile …
Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C.
Gutić M, Milosavljević MN, Janković SM. Gutić M, et al. Int J Clin Pharm. 2022 Dec;44(6):1442-1453. doi: 10.1007/s11096-022-01491-8. Epub 2022 Oct 15. Int J Clin Pharm. 2022. PMID: 36243834
BACKGROUND: Niemann-Pick disease type C (NP-C) is a progressive neurodegenerative disorder with early infantile (< 2 years), late infantile (2-6 years), juvenile (7-15 years) and adolescent (> 15 years) onset. ...RESULTS: Tre …
BACKGROUND: Niemann-Pick disease type C (NP-C) is a progressive neurodegenerative disorder with early inf …
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 …
Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment.
Gascón-Bayarri J, Simon PC, Llop R, Carnaval T, Ledesma MD, Rico I, Sánchez-Castañeda C, Campdelacreu-Fumadó J, Calvo-Malvar N, Cos M, de Lama E, Cortés-Romera M, Rodríguez-Bel L, Pérez-Sousa C, Cerdán Sánchez M, Muelas N, Sevillano MD, Mir P, López de Munain A, Ferrer A, Videla S. Gascón-Bayarri J, et al. Medicine (Baltimore). 2022 Dec 2;101(48):e31471. doi: 10.1097/MD.0000000000031471. Medicine (Baltimore). 2022. PMID: 36482560 Free PMC article.
BACKGROUND: Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. ...Although different therapeutic approaches are under study, this is the first clinical trial (to the best of our knowledge) studyi …
BACKGROUND: Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. ...Alt …
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 …
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 …
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.
Patterson MC, Mengel E, Vanier MT, Moneuse P, Rosenberg D, Pineda M. Patterson MC, et al. Orphanet J Rare Dis. 2020 Apr 25;15(1):104. doi: 10.1186/s13023-020-01363-2. Orphanet J Rare Dis. 2020. PMID: 32334605 Free PMC article.
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, progressive neurodegenerative disorder characterized by progressive neurodegeneration and premature death. ...First neurological symptom onset occurred during the early-infa …
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, progressive neurodegenerative disorder characte …
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT. Héron B, et al. Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36. Orphanet J Rare Dis. 2012. PMID: 22676771 Free PMC article. Clinical Trial.
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. ...Eight NPC1 patients had the early-infantile, eight had the late-infantile, …
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease ch …
18 results