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Quoted phrase not found in phrase index: "Niemann-Pick disease type C, adult neurologic onset"
Page 1
Miglustat in Niemann-Pick disease type C patients: a review.
Pineda M, Walterfang M, Patterson MC. Pineda M, et al. Orphanet J Rare Dis. 2018 Aug 15;13(1):140. doi: 10.1186/s13023-018-0844-0. Orphanet J Rare Dis. 2018. PMID: 30111334 Free PMC article. Review.
OBJECTIVE: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. ...Magnetic resonance imaging studies have demonstrated a p …
OBJECTIVE: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease a …
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States.
Burton BK, Ellis AG, Orr B, Chatlani S, Yoon K, Shoaff JR, Gallo D. Burton BK, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):182-187. doi: 10.1016/j.ymgme.2021.06.011. Epub 2021 Jul 1. Mol Genet Metab. 2021. PMID: 34304992 Free article.
BACKGROUND: Niemann-Pick Disease Type C (NPC) is an ultra-rare progressive neurodegenerative disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes that lead to premature death, with most individuals dying between 10 and 25 ye …
BACKGROUND: Niemann-Pick Disease Type C (NPC) is an ultra-rare progressive neurodegenerative disease caus …
Niemann-Pick type C as a cause of progressive intellectual and neurological deterioration in childhood.
Winstone AM, Stellitano LA, Verity CM. Winstone AM, et al. Dev Med Child Neurol. 2017 Sep;59(9):965-972. doi: 10.1111/dmcn.13476. Epub 2017 Jun 2. Dev Med Child Neurol. 2017. PMID: 28574146 Free article.
Fifteen cases had a systemic presentation (neonatal jaundice and/or hepatosplenomegaly). Thirty-eight had a neurological onset, the commonest presenting symptom being gait disturbance/ataxia (29 cases, 76%). ...The median diagnostic delay in the 38 neurological …
Fifteen cases had a systemic presentation (neonatal jaundice and/or hepatosplenomegaly). Thirty-eight had a neurological onset …
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 …
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.
Mengel E, Pineda M, Hendriksz CJ, Walterfang M, Torres JV, Kolb SA. Mengel E, et al. Mol Genet Metab. 2017 Mar;120(3):180-189. doi: 10.1016/j.ymgme.2016.12.003. Epub 2016 Dec 7. Mol Genet Metab. 2017. PMID: 27993458 Free article.
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progressive neurovisceral symptomatology. ...For NP-C cases >4years of age, each cluster contained a mixture of visceral, neurologic …
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progr …
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B. Nadjar Y, et al. Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. Orphanet J Rare Dis. 2018. PMID: 30285904 Free PMC article.
BACKGROUND: Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. ...RESULTS: In France, patients with an adolescent-adult neurologi …
BACKGROUND: Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease cau …
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B. Freihuber C, et al. Orphanet J Rare Dis. 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. Orphanet J Rare Dis. 2023. PMID: 37480097 Free PMC article.
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later …
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease ch …
Oculomotor abnormalities in children with Niemann-Pick type C.
Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A. Blundell J, et al. Mol Genet Metab. 2018 Feb;123(2):159-168. doi: 10.1016/j.ymgme.2017.11.004. Epub 2017 Nov 16. Mol Genet Metab. 2018. PMID: 29191430
Saccade onset latency, saccade peak velocity and saccade curvature were compared to healthy controls (N=77). ...Both slowing, curvature and the detailed characteristics of the curvature we observed are predicted by the detailed characteristics of RIMLF population codes. …
Saccade onset latency, saccade peak velocity and saccade curvature were compared to healthy controls (N=77). ...Both slowing, curvatu …
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 …
31 results