Results 51 to 60 of about 48,564 (222)

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency—results from an international survey study

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by SMPD1 mutations, resulting in sphingomyelin accumulation and diverse manifestations.
Adel Sabet Morsy, Solomon Mbua, Toni Mathieson, Justin Hopkin, Shaun Bolton   +4 more
doaj   +1 more source

Priapism associated with Niemann-Pick disease in a 15-year-old boy

Indian Journal of Urology, 2011
A 15-year-old boy presented with priapism of 46 h duration. There was no known cause of priapism detected in him. During evaluation, biopsy of the lymph node and bone marrow aspiration detected patient to be having Niemann-Pick disease.
M V Krishna Shetty, M Udaya Kumar, T K Sen   +2 more
doaj   +1 more source

Alterations of intestinal lipoprotein metabolism in diabetes mellitus and metabolic syndrome [PDF]

, 2015
Diabetes and metabolic syndrome are associated with abnormal postprandial lipoprotein metabolism, with a significant delay in the clearance of many lipid parameters, including triglycerides and chylomicrons.
ARCA, Marcello
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Targeting the PGRN‐BMP Lysosomal Axis With NPs@PGRN Reverses Immunometabolic Dysfunction in Chronic Septic Arthritis

Advanced Science, EarlyView.
Chronic septic arthritis involves intracellular bacterial persistence and lipid‐immune crosstalk via the PGRN‐BMP lysosomal axis. A dual‐targeting nanoparticle system (NPs@PGRN) restores lysosomal bactericidal function, reduces bacterial burden, and reprograms macrophage immunity, offering a novel therapeutic strategy. ABSTRACT Chronic septic arthritis,
Congsun Li, Jiaqi Fan, Tao Sun, Wushi Cui, Jiaxuan Zou, Weinan Yang, Liang Chen, Jian Xiao, Shicheng Wang, Tao Zhang, Jianqiao Hong, An Liu, Haobo Wu   +12 more
wiley   +1 more source

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency

Orphanet Journal of Rare Diseases
Background Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinase.
Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe, Justin Hopkin   +6 more
doaj   +1 more source

Cellular Mechanisms in Niemann Pick type C disease [PDF]

, 2012
Over 200 disease-causing mutations have been identified in the NPC1 gene. NPC1 is a 1278 amino acid protein with 13 transmembrane domains that is crucial for normal cholesterol homeostasis.
DELLA SALA, GRAZIA
core  

Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease [PDF]

, 2014
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene.
Annik Lampo, Edward Campforts, Linda De Meirleir, Sara Wouters   +3 more
core   +1 more source

Intestinal Source Control of Lipid Metabolism by Enzyme‐Probiotic Encapsulated, Spatiotemporal Crosslinked, and Small Intestine‐Adhesive Hydrogel Microspheres

Advanced Science, EarlyView.
A thiol‐modified alginate hydrogel microsphere‐encapsulated enzyme‐probiotic biohybrid (AKK‐COD) system has been developed to address the spatiotemporal delivery and colonization challenges of small intestine‐targeted probiotic for lipid metabolism regulation. The system exerts sequential functions of intragastric protection, small intestinal adhesion,
Xiaolin Wu, Weiwen Liang, Siqi He, Guangyuan Chen, Hui Zhou, Xinglong Wang, Yifei Li, Dingcai Wu, Bingna Zheng, Ruoxu Dou, Rongkang Huang   +10 more
wiley   +1 more source