Results 81 to 90 of about 24,478,248 (209)

Plasma phosphorylated-tau217 is increased in Niemann–Pick disease type C [PDF]

Niemann–Pick disease type C and Alzheimer’s disease are distinct neurodegenerative disorders that share the presence of neurofibrillary tangle pathology.
Gonzalez-Ortiz, Fernando, Karikari, Thomas,, Blennow, Kaj,, Karikari, Thomas K, Platt, Frances, Kirsebom, Bjørn-Eivind, Kirsebom, Bjorn-Eivind, Taylor-Te Vruchte, Danielle, Vruchte, Danielle Taylor-Te, Kirsebom, Bjørn-Eivind Seljelid, Fladby, Tormod, Blennow, Kaj, Karikari, Thomas K., Shepherd, Dawn, Gonzalez-Ortiz, Fernando,   +14 more
core   +1 more source

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2012
Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are
Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, Vanier Marie T   +13 more
doaj   +1 more source

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed Allele

Journal of Inborn Errors of Metabolism and Screening, 2015
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C.
Julia Jecel MD, Klaus Harzer MD, Eduard Paschke MD, Stefanie Beck-Wödl PhD, Peter Bauer MD, Milos Hejtman MD, Regina Katzenschlager MD   +6 more
doaj   +1 more source

Immune dysfunction in Niemann‐Pick disease type C

Journal of Neurochemistry, 2015
AbstractLysosomal storage diseases are inherited monogenic disorders in which lysosome function is compromised. Although individually very rare, they occur at a collective frequency of approximately one in five thousand live births and usually have catastrophic consequences for health. The lysosomal storage diseases Niemann‐Pick disease type C (NPC) is
Platt, Nick, Speak, Annelise O., Colaco, Alexandria, Gray, James, Smith, David A., Williams, Ian M., Wallom, Kerri‐Lee, Platt, Frances M.   +7 more
openaire   +2 more sources

Niemann-Pick disease type C: nodular splenomegaly.

, 1995
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage lipidosis due to a disorder of cholesterol esterification leading to the accumulation of sphingomyelin and cholesterol in the brain, liver, and spleen.
Mentha G, Frank-Burkhardt SE, Seemayer TA, Terrier F, Omarini LP   +4 more
core   +1 more source

Miglustat in Niemann-Pick disease type c (NPC)

, 2008
Miglustat in Niemann-Pick disease type c ...
Ed Wraith (15917000), Darleen Vecchio (15917003), Helena Prady (15917006), Marc Patterson (5636096), Larry Abel (13056207)   +4 more
core   +1 more source

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature

BMC Infectious Diseases
Background Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly.
Chaoxin Tao, Min Zhao, Xiaohui Zhang, Jihong Hao, Qiuyue Huo, Jie Sun, Jiangtao Xing, Yuna Zhang, Jianhong Zhao, Huaipeng Huang   +9 more
doaj   +1 more source

Consensus clinical management guidelines for Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2018
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the ...
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)   +25 more
doaj   +1 more source

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish[S]

Journal of Lipid Research, 2011
Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mu­tations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend, Evyn J. Loucks, Diana Snyder, Sara C. Ahlgren   +3 more
doaj   +1 more source

Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient

, 2010
New treatment options for Niemann-Pick Type C (NPC) have recently become available. To assess the efficiency and efficacy of these new treatment markers for disease status and progression are needed.
Lanyon, Linda J, Mattman, Andre, Scheel, Michael, Abegg, Mathias, Barton, Jason J   +4 more
core   +1 more source