Results 1 to 10 of about 14,349 (135)

Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia [PDF]

Molecular Genetics & Genomic Medicine, 2022
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.
Mary L. Vo, Tess Levy, Shenela Lakhani, Chengbing Wang, M. Elizabeth Ross   +4 more
doaj   +2 more sources

Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities [PDF]

Frontiers in Cellular Neuroscience
Niemann Pick Disease Type C (NPC) is a rare neurodegenerative disease that primarily affects children. It is caused by mutations in the NPC1 or NPC2 genes, which encode proteins that transport cholesterol out of the endolysosomal organelles ...
Sarah Catherine B. Hawthorne, Ursula S. Sandau, Julie A. Saugstad   +2 more
doaj   +2 more sources

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

EBioMedicine, 2016
Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for years.
Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt   +7 more
doaj   +3 more sources

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

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   +2 more sources

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Journal of Medical Case Reports, 2022
Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and ...
Mohammad Barzegar, Fatemeh Valaee, Shadi Ghoreishizadeh   +2 more
doaj   +1 more source

Niemann-Pick disease type C with kidney involvement

Human Pathology: Case Reports, 2021
Niemann-Pick disease type C is a lysosomal storage disease characterized by defects in lipid trafficking, typically involving the liver, spleen, and central nervous system. Only rare reports of renal involvement of Niemann-Pick disease have been reported
Aanand A. Patel, Anthony Sisk, Jonathan E. Zuckerman   +2 more
doaj   +1 more source

Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

Frontiers in Genetics, 2022
Niemann–Pick disease is a relatively common lysosomal storage disease. Cholestatic liver disease is a typical clinical phenotype of Niemann–Pick disease in infancy. The diagnosis is traditionally based on Niemann–Pick cells in bone marrow smears or liver
Fan Chen, Shan Guo, Xuesong Li, Shengxuan Liu, Li Wang, Victor Wei Zhang, Hui Xu, Zhihua Huang, Yanqin Ying, Sainan Shu   +9 more
doaj   +1 more source

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. [PDF]

PLoS ONE, 2017
The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in ...
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan   +12 more
doaj   +1 more source

Molecular basis for a new bovine model of Niemann-Pick type C disease.

PLoS ONE, 2020
Niemann-Pick type C disease is a lysosomal storage disease affecting primarily the nervous system that results in premature death. Here we present the first report and investigation of Niemann-Pick type C disease in Australian Angus/Angus-cross calves ...
Shernae A Woolley, Emily R Tsimnadis, Cor Lenghaus, Peter J Healy, Keith Walker, Andrew Morton, Mehar S Khatkar, Annette Elliott, Ecem Kaya, Clarisse Hoerner, David A Priestman, Dawn Shepherd, Frances M Platt, Ben T Porebski, Cali E Willet, Brendon A O'Rourke, Imke Tammen   +16 more
doaj   +1 more source

Estimated prevalence of Niemann–Pick type C disease in Quebec

Scientific Reports, 2021
Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose.
Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette, Martine Tétreault   +4 more
doaj   +1 more source