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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 unfrequently fol …
The first neurological symptoms vary with age of onset: delay in developmental motor milestones (early infantile …
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 …
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 …
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 …
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.
The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict t …
The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neuro …
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 …
[Adult onset Niemann-Pick type C disease and psychosis: literature review].
Maubert A, Hanon C, Metton JP. Maubert A, et al. Encephale. 2013 Oct;39(5):315-9. doi: 10.1016/j.encep.2013.04.013. Epub 2013 Aug 5. Encephale. 2013. PMID: 23928063 Review. French.
Indeed, only a couple of articles specifically describing the psychiatric-disorders in the adult form have been published. And for the most part, they were not written by psychiatrists. ...It is characterized by a wide range of symptoms that are not specific, such as ne …
Indeed, only a couple of articles specifically describing the psychiatric-disorders in the adult form have been published. And for th …
Psychosis symptoms associated with Niemann-Pick disease type C.
Ong LT. Ong LT. Psychiatr Genet. 2021 Aug 1;31(4):107-118. doi: 10.1097/YPG.0000000000000286. Psychiatr Genet. 2021. PMID: 34133410 Review.
Niemann-Pick disease type C (NP-C) is a severe neurovisceral lipid storage disease that results in the accumulation of unesterified cholesterol in lysosomes or endosomes. ...The common psychotic presentations in NP-C include visual hallucination …
Niemann-Pick disease type C (NP-C) is a severe neurovisceral lipid storage disease that results in the ac …
20 results