Results 61 to 70 of about 28,810 (212)

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +1 more source

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

Neurobiology of Disease, 2005
Gaucher disease is an inherited metabolic disorder caused by defective activity of the lysosomal enzyme, glucocerebrosidase, resulting in accumulation of the lipids, glucosylceramide (GlcCer), and glucosylsphingosine (GlcSph).
Dori Pelled, Selena Trajkovic-Bodennec, Emyr Lloyd-Evans, Ellen Sidransky, Raphael Schiffmann, Anthony H. Futerman   +5 more
doaj   +1 more source

Thermo‐Chemically Modified Silk Scaffolds Reveal Niche‐Driven Regulation of Hematopoiesis and Fibrosis

Small, EarlyView.
We introduce a versatile 3D platform that recreates key physical and biological features of the human bone marrow. By integrating tunable silk biomaterials, stromal cells, and human hematopoietic progenitors, the model captures both healthy and diseased microenvironments, analysis of blood formation, and its disruption in pathological conditions ...
Christian A. Di Buduo, Carolina P. Miguel, Giulia Della Rosa, Vittorio Abbonante, Santo Diprima, Delfina Tosi, Marta Filibian, Daniele Cattaneo, Jugal Kishore Sahoo, Nicola Tirelli, Alessandra Iurlo, Umberto Gianelli, David L. Kaplan, Alessandra Balduini   +13 more
wiley   +1 more source

Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease [PDF]

, 2018
K
Batta, Gyula, Bozó, Tamás, Kellermayer, Miklós, Kovács, Tamás, Mészár, Zoltán Mihály, Nagy, Péter, Soltész, Lilla, Szöllősi, János   +7 more
core   +2 more sources

Validity assessment for technical skills and stress management of the HelpMeSee® Manual Small Incision Cataract Surgery module

Acta Ophthalmologica, EarlyView.
Abstract Purpose To assess the validity of the HelpMeSee Manual Small Incision Cataract Surgery (MSICS) module as a virtual reality training tool for technical skills and stress management in ophthalmology. Methods This prospective study enrolled 47 volunteer surgeons from five groups: four groups of eye surgeons with increasing experience (novice ...
Lea Dormegny, Marion Schaeffer, Nicole Neumann, Remi Yaïci, Lauriana Solecki, Gauthier Dechriste, Emilia Koestel, David Gaucher, Arnaud Sauer, Van Charles Lansingh, Anne Lejay, Nabil Chakfé, Tristan Bourcier   +12 more
wiley   +1 more source

Orbital rhabdomyosarcoma in a patient with Gaucher disease type 3: a case report and literature review

Egyptian Pediatric Association Gazette
Background Several studies have demonstrated an increased risk of malignancy in patients with Gaucher disease, particularly hematological cancers, which have been most frequently reported in Gaucher disease type 1.
Azza Abdel Gawad Tantawy, Amira Abdel Moneam Adly, Khaled Anwar El Sayed, Salwa Mostafa Abdelkader, Nihal Hussien aly   +4 more
doaj   +1 more source

A case of motor neuron involvement in Gaucher disease

Molecular Genetics and Metabolism Reports, 2019
Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive ...
V. Pozzilli, F. Giona, M. Ceccanti, C. Cambieri, V. Frasca, E. Onesti, L. Libonati, S. Di Bari, I. Fiorini, L. Cardarelli, M. Santopietro, M. Inghilleri   +11 more
doaj   +1 more source

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. [PDF]

, 2013
BACKGROUND: Previous studies have provided equivocal data on the use of miglustat as maintenance therapy in Gaucher disease type 1. We report findings from a clinical trial evaluating the effects of miglustat treatment in patients with stable type 1 ...
Amato, Dominick, Cox, Timothy M, Giorgino, Ruben, Hollak, Carla Em, Luzy, Cecile, Miglustat Maintenance Study Group, Silkey, Mariabeth, Steiner, Robert D   +7 more
core   +2 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source