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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 …
Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.
Berry-Kravis E. Berry-Kravis E. Semin Pediatr Neurol. 2021 Apr;37:100879. doi: 10.1016/j.spen.2021.100879. Epub 2021 Feb 12. Semin Pediatr Neurol. 2021. PMID: 33892845 Review.
Niemann-Pick disease, type C (NPC) is a highly heterogeneous rare neurovisceral storage disease with early infantile, late infantile, juvenile and adult onset forms, and relentlessly progressive neurodegeneration leading to death. …
Niemann-Pick disease, type C (NPC) is a highly heterogeneous rare neurovisceral storage disease with earl …
Cataplexy and sleep disorders in Niemann-Pick type C disease.
Nevsimalova S, Malinova V. Nevsimalova S, et al. Curr Neurol Neurosci Rep. 2015 Jan;15(1):522. doi: 10.1007/s11910-014-0522-0. Curr Neurol Neurosci Rep. 2015. PMID: 25434476 Review.
Niemann-Pick disease type C (NP-C) is a rare and progressive autosomal recessive disease leading to disabling neurological manifestation and premature death. The disease is prone to underdiagnosis because of its highly heterogeneous prese …
Niemann-Pick disease type C (NP-C) is a rare and progressive autosomal recessive disease leading to disab …
Niemann-Pick disease type C symptomatology: an expert-based clinical description.
Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. Mengel E, et al. Orphanet J Rare Dis. 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. Orphanet J Rare Dis. 2013. PMID: 24135395 Free PMC article. Review.
Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. ...Progressive cognitive decline, which always occurs in patients with NP-C, manifests a …
Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling n …
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 …
New agents and approaches to treatment in Niemann-Pick type C disease.
Pérez-Poyato MS, Pineda M. Pérez-Poyato MS, et al. Curr Pharm Biotechnol. 2011 Jun;12(6):897-901. doi: 10.2174/138920111795542697. Curr Pharm Biotechnol. 2011. PMID: 21235443 Review.
Niemann-Pick disease type C is an autosomal recessive disorder caused by mutations in either one of the two genes, NPC1 or NPC2, which encode proteins involved in the regulation of normal transport and/or processing of free cholesterol. ...The s …
Niemann-Pick disease type C is an autosomal recessive disorder caused by mutations in either one of the t …
Niemann-Pick type C: focus on the adolescent/adult onset form.
Di Lazzaro V, Marano M, Florio L, De Santis S. Di Lazzaro V, et al. Int J Neurosci. 2016 Nov;126(11):963-71. doi: 10.3109/00207454.2016.1161623. Epub 2016 Mar 29. Int J Neurosci. 2016. PMID: 26998855 Review.
Niemann-Pick disease type C (NP-C) is an inherited sphingolipidosis characterized by progressive neurological deterioration and early mortality. The symptomatology and disease progression of NP-C are markedly affected by the age at …
Niemann-Pick disease type C (NP-C) is an inherited sphingolipidosis characterized by progressive neuro …
Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.
Vanier MT. Vanier MT. Neurochem Res. 1999 Apr;24(4):481-9. doi: 10.1023/a:1022575511354. Neurochem Res. 1999. PMID: 10227680 Review.
Niemann-Pick disease type C (NPC) is a neurovisceral disorder characterized by lysosomal sequestration of endocytosed LDL-cholesterol, premature and abnormal enrichment of cholesterol in trans Golgi cisternae and accompanying anomalies in intrac …
Niemann-Pick disease type C (NPC) is a neurovisceral disorder characterized by lysosomal sequestration of …
Niemann-Pick disease type C: two cases and an update.
Uc EY, Wenger DA, Jankovic J. Uc EY, et al. Mov Disord. 2000 Nov;15(6):1199-203. doi: 10.1002/1531-8257(200011)15:6<1199::aid-mds1020>3.0.co;2-1. Mov Disord. 2000. PMID: 11104205 Review.
We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gau …
We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrat …
[Niemann-Pick type C disease: clinical presentations in pediatric patients].
Héron B, Ogier H. Héron B, et al. Arch Pediatr. 2010 Jun;17 Suppl 2:S45-9. doi: 10.1016/S0929-693X(10)70011-7. Arch Pediatr. 2010. PMID: 20620895 Review. French.
The perinatal presentation is visceral. In the early-infantile, late-infantile and juvenile period, a wide range of aspecific and progressive neurologic symptoms varies according to the age at onset, but four signs have a great diagnostic value : prolo …
The perinatal presentation is visceral. In the early-infantile, late-infantile and juvenile period, a wide range of aspecific and pro …