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Quoted phrase not found in phrase index: "Niemann-Pick disease type C, adult 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 unfrequently fol …
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 …
Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.
Vo ML, Levy T, Lakhani S, Wang C, Ross ME. Vo ML, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1906. doi: 10.1002/mgg3.1906. Epub 2022 Feb 22. Mol Genet Genomic Med. 2022. PMID: 35192242 Free PMC article.
BACKGROUND: Adult-onset Nieman-Pick disease type C (NPC) is a rare progressive ataxia caused by lysosomal accumulation of unesterified cholesterol resulting in severe disability and death. ...CONCLUSIONS: The study established the correct molecular diagnosis of bial …
BACKGROUND: Adult-onset Nieman-Pick disease type C (NPC) is a rare progressive ataxia caused by lysosomal accumulation of unes …
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 …
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 …
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 …
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 …
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 …
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 …
60 results