Results 51 to 60 of about 4,991,114 (167)

Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire

Orphanet Journal of Rare Diseases, 2019
Background Fabry disease (FD) is a rare, X-linked, inherited lysosomal disease caused by absent or reduced α-galactosidase A activity. Due to the heterogeneity of disease presentation and progression, generic patient-reported outcome (PRO) tools do not ...
Esther Noël, Bertrand Dussol, Didier Lacombe, Najya Bedreddine, Alain Fouilhoux, Pierre Ronco, Delphine Genevaz, Soumeya Bekri, Albert Hagège, Frédérique Dupuis-Siméon, Valérie Derrien Ansquer, Dominique P. Germain, Olivier Lidove   +12 more
doaj   +1 more source

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A, Hermann Mascher (440562), Hermann Mascher, Anne-Katrin Giese, Ed Kolodny, Ulrike Grittner, Anne-Katrin Giese (440558), Arndt Rolfs (140849), Arseni Markoff (440559), Mascher, H, Arseni Markoff, Markoff, A, Karl J. Lackner (133732), Viatcheslav Saviouk (364866), Viatcheslav Saviouk, Saviouk, V, Phillip Wree, Arndt Rolfs, Grittner, U, Jan Lukas, Kolodny, E, Ed Kolodny (440561), Phillip Wree (440564), Wree, P, Jan Lukas (338014), Ulrike Grittner (440560), Karl J Lackner, Lukas, J, Wolfgang Meyer, Meyer, W, Wolfgang Meyer (440563), Giese, A-K, Lackner, KJ   +32 more
core   +2 more sources

Resistive index of central retinal artery, aortic arterial stiffness and OCTA correlated parameters in the early stage of fabry disease

Scientific Reports
This study aimed to evaluate the impact of Fabry disease (FD) on retinal microvasculature using optical coherence tomography angiography (OCTA), arterial stiffness, and the resistive index (RI) of the central retinal artery (CRA) in early disease stages.
Michele Rinaldi, Flavia Chiosi, Maria Laura Passaro, Francesco Natale, Alessia Riccardo, Luca D’Andrea, Martina Caiazza, Marta Rubino, Emanuele Monda, Gilda Cennamo, Francesco Calabrò, Giuseppe Limongelli, Ciro Costagliola   +12 more
doaj   +1 more source

Mutation-Specific Cardiomyocyte Lines from Patients with Fabry Disease: A Sustainable In Vitro Model to Investigate Structure, Function, and Disease Mechanisms

International Journal of Translational Medicine
Background: Fabry disease (FD) results from pathogenic GLA variants, causing lysosomal α-galactosidase A (α-GalA) deficiency and sphingolipid ceramide trihexoside (Gb3 or THC) accumulation.
Kathleen Nicholls, Andrea Wise, David Elliot, Menno ter Huurne, Maria Fuller, Sharon Ricardo   +5 more
doaj   +1 more source

Pulmonary involvement in Fabry disease

, 2006
Pulmonary involvement in Fabry disease has received less attention than the effects of the disease on the kidneys, nervous system or heart. However, data from FOS -the Fabry Outcome Survey - are now helping to elucidate the pulmonary manifestations of ...
Barbey, F., Aubert, J.D.
core   +1 more source

Comparison of efficacy between subcutaneous and intravenous application of moss‐aGal in the mouse model of Fabry disease

JIMD Reports, 2023
Fabry disease (FD, OMIM 301500) is a rare X‐linked inherited lysosomal storage disorder associated with reduced activities of α‐galactosidase A (aGal, EC 3.2.1.22).
Paulina Dabrowska‐Schlepp, Andreas Busch, Jin‐Song Shen, Rachel Y. Cheong, Lone Bruhn Madsen, Daniel Mascher, Raphael Schiffmann, Andreas Schaaf   +7 more
doaj   +1 more source

Quantum Dots for Biomedical Biosensing, NIR‐II Bioimaging, and Phototherapy: Materials Design, Signal Transduction, and Translational Barriers

Advanced Science, Volume 13, Issue 33, 15 June 2026.
This review outlines bottom‐up and biomimetic fabrication strategies of quantum dots, and highlights their emerging applications in biosensing, multimodal bioimaging, and intelligent cancer theranostics. It further discusses key translational barriers and future perspectives for advancing QD‐based nanomedicine toward clinical implementation.
Jie Ju, Zhifang Liu, Xinran Gao, Wen Sun, Wei Fu, Yanfei Wang   +5 more
wiley   +1 more source

Supplementary Material for: Blood Pressure Variability in Fabry Disease Patients

, 2021
Introduction: Fabry disease is a rare metabolic, multisystemic, and X-linked lysosomal storage disorder. The involvement of the autonomic nervous system is well defined; however, data on the variability of the blood pressure (BP) and heart rate in Fabry ...
Kiykim E. (11862506), Ozcan S.G. (11862500), Ikitimur B. (11862503), Bakir A. (11266692), Seyahi N. (4242484), Dincer M.T. (9984839), Trabulus S. (4242475)   +6 more
core   +1 more source

MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease

Biomedicines
Background/Objectives: Fabry disease (FD) is a rare X-linked lysosomal storage disorder characterised by progressive glycolipid accumulation affecting multiple organs, including the peripheral nervous system. The dorsal root ganglia (DRG) play a key role
Simon Weiner, Sarah Perleth, Thomas Kampf, Kolja Lau, Florian Hessenauer, György Homola, Peter Nordbeck, Nurcan Üçeyler, Claudia Sommer, Mirko Pham, Magnus Schindehütte   +10 more
doaj   +1 more source