Results 31 to 40 of about 30,962 (231)

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

Journal of Medical Case Reports, 2012
Introduction Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations.
Skorpen Johannes, Helland Ingrid B, Tennøe Bjørn   +2 more
doaj   +1 more source

Nutrition management of Niemann Pick disease type C: A case report

Endocrine Regulations, 2021
Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Viana dos Santos Rejane, das Neves Ferreira Tamila, Oliveira de Almeida Daniela, Brito da Silva Fatal Lilian, Queiroz Araujo Edilene Maria   +4 more
doaj   +1 more source

Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases

BMC Medicine, 2019
Background Niemann–Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes.
Mark L. Schultz, Maria V. Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, Hayley S. McLoughlin, David D. Bushart, Henry L. Paulson, Vikram G. Shakkottai, Daniel A. Orringer, Anna S. Schwendeman, Andrew P. Lieberman   +16 more
doaj   +1 more source

Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations [PDF]

, 2016
PURPOSE: Predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course
Alexander O. Reznik, CA Wassif, Daniel S. Ory, DE Sleat, DM Jordan, F Chang, FD Porter, GR Oliver, H Börnig, H Jahnova, HJ Kwon, HR Davis Jr, IA Adzhubei, Igor B. Zhulin, JA Tennessen, JD Retief, JE Dickerson, JM White, K Katoh, KA King, M Lynch, M Stampfer, MC Patterson, MT Vanier, MT Vanier, MT Vanier, NO Stitziel, O Adebali, Ogun Adebali, PC Ng, PC Ng, RD Finn, S Castellana, S Guindon, S Nusca, SB Ng, SF Altschul, SH Katsanis, SR Sunyaev, U Omasits, X Jiang, X Yan, Y Choi, Z Wang   +43 more
core   +3 more sources

Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A

Stem Cell Research, 2019
Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene. Only 5% of NPC patients suffer from mutations of the NPC2 gene.
Christin Völkner, Franziska Peter, Maik Liedtke, Saskia Krohn, Iris Lindner, Hugo Murua Escobar, Chiara Cimmaruta, Jan Lukas, Andreas Hermann, Moritz J. Frech   +9 more
doaj   +1 more source

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [PDF]

, 2016
Background. Tuberculosis remains a major global health concern. The ability to prevent phagosome-lysosome fusion is a key mechanism by which intracellular mycobacteria, including Mycobacterium tuberculosis, achieve long-term persistence within host cells.
A Morgan, A Pandey, C Chen, C Davidson, C Pacheco, C Ramirez, C Settembre, C Varela, D Bowdish, D Dao, D Höglinger, D Neville, D Russell, D Russell, D Sleat, D te Vruchte, E Lloyd-Evans, E Lloyd-Evans, E Millard, F Camargo, F Chen, F Lu, F Platt, F Stein, G Besra, I Vergne, I Vergne, J Armstrong, J Bilmen, J Carette, J Davies, J Gray, J Indrigo, J Verschoor, J Wraith, J Wu, K Tahlan, K Takayama, M Beukes, M Katti, M Kim, M Majeed, M Patterson, M Patterson, M Pineda, M Tsai, M Vanier, M Vanier, N Lack, P Domenech, P Fineran, P Peyron, P Woodruff, R Hunter, R Infante, R Jayachandran, R Lachmann, R Lang, S Axelrod, S Naureckiene, S Sturgill-Koszycki, S Zimmerli, T Evans, T Schwerd, V Rao, V Stein, W Beatty, W Lee, X Gong, X He, X Li, Y Benadie, Y Fujita, Z Malik   +73 more
core   +3 more sources

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Gelastic Cataplexy in Niemann Pick Type C [PDF]

Movement Disorders Clinical Practice, 2019
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Narges Yazdi, Alfonso Fasano, Anthony E. Lang, Mohammad Rohani   +3 more
openaire   +2 more sources

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat [PDF]

, 2015
Peer reviewedPublisher ...
Abel, Larry A, Bowman, Elizabeth A, Stainer, Matthew J, Velakoulis, Dennis, Walterfang, Mark   +4 more
core   +3 more sources