Results 21 to 30 of about 25,942 (185)

A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +1 more source

The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran [PDF]

, 2017
How to Cite This Article: Noroozi Asl S, Vakili R, Ghaemi N, Eshraghi P. The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. Iran J Child Neurol. Summer 2017; 11(3):53-56. AbstractNiemann–Pick disease type
ESHRAGHI, Peyman, GHAEMI, Nosrat, NOROOZI ASL, Samaneh, VAKILI, Rahim   +3 more
core   +2 more sources

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

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. [PDF]

, 2017
PURPOSE OF REVIEW: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay.
Anheim, M, Bauer, P, Bonnot, O, Clayton, P, Dardis, A, Dionisi-Vici, C, Gissen, P, Klünemann, H-H, Latour, P, Lourenço, CM, Marquardt, T, Ory, DS, Parker, A, Patterson, MC, Pocoví, M, Strupp, M, Vanier, MT, Walterfang, M   +17 more
core   +3 more sources

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

Linear cyclodextrin polymer prodrugs as novel yherapeutics for Niemann-Pick type C1 disorder [PDF]

, 2018
Niemann-Pick Type C1 disorder (NPC) is a rare lysosomal storage disease characterized by the accumulation of cholesterol in lysosomes. NPC has no FDA approved treatments yet, however 2-hydroxypropyl-β-cyclodextrin (HPβCD) has shown efficacy for treating ...
Aditya Kulkarni, Alberto Macone, Atul Dolas, Jessica Dragotto, Maria Teresa Fiorenza, Paola Caporali, Ramesh Jayaraman, Sandeep Goyal, Soniya Johny   +8 more
core   +1 more source

Niemann Pick disease: a rare lysosomal storage disease

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu, Sk Serjina Anwar, Noor A Sabah Liza, Syeda Tabassum Alam, Sanjida Ahmed, Mohammad Arbab Sarker, Meher Nigar Nishi, Sharmina Afrin, Mohammad Abdul Quddus   +8 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

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