Results 71 to 80 of about 7,193 (177)

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland

ESC Heart Failure, Volume 12, Issue 5, Page 3502-3511, October 2025.
Abstract Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and 52 years) were followed for a mean of 12 years.
Kati Valtola, Päivi Pietilä‐Effati, Jonna M. E. Männistö, Susanne Walls, Ilkka Kantola, Johanna Kuusisto   +5 more
wiley   +1 more source

Impaired plasma membrane calcium ATPase activity and mitochondrial dysfunction contribute to calcium dysregulation in Fabry disease-related painful neuropathy

Neurobiology of Disease
Neuropathic pain is a hallmark symptom in Fabry disease (FD), a hereditary X-linked lysosomal storage disorder caused by a reduced activity of α-galactosidase A (α-Gal A).
Francesco Formaggio, Asia Pizzi, Cecilia Delprete, Davide Pasqualini, Isabella Mataloni, Roberto Rimondini, Ludovica Campolongo, Vincenzo Donadio, Anna Maria Ghelli, Rocco Liguori, Marco Caprini   +10 more
doaj   +1 more source

Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease

, 2018
Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues.
Charlotte Dawson, Boutin, Michel, Auray-Blais, Christiane, Wheeldon, Nigel, Ward, Douglas G.; id_orcid, Baig, Shanat, Steed, Rick, Alharbi, Fahad J., Rick Steed, Michel Boutin, Nigel Wheeldon, Douglas G. Ward, Geberhiwot, Tarekegn, Derralynn Hughes, Shanat Baig, Dawson, Charlotte, Christiane Auray-Blais, Hughes, Derralynn, Tarekegn Geberhiwot, Fahad J. Alharbi   +19 more
core   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus

The Turkish Journal of Gastroenterology, 2020
Objectives: This study aims to determine the prevalence of Fabry disease (FD) among patients with juvenile systemic lupus erythematosus (SLE). Patients and methods: This cross-sectional study included 76 juvenile SLE patients (12 males; 64 females ...
Ertugrul KIYKIM, Sezgin ŞAHİN, Tanyel ZUBARIOĞLU, Kenan BARUT, Amra ADROVIC, Mehmet Şerif CANSEVER, Ayşe Çiğdem AKTUĞLU ZEYBEK, Özgür KASAPÇOPUR   +7 more
doaj  

The Utility of High‐Sensitivity Troponin to Detect Cardiomyopathy in Patients With Fabry Disease

JIMD Reports, Volume 66, Issue 5, September 2025.
ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disease resulting in lysosomal accumulation of glycosphingolipids in multiple organs. In this study, we (1) compare high‐sensitivity cardiac troponins I and T (hs‐cTnI and hs‐cTnT) as markers of Fabry cardiomyopathy (FC), and (2) evaluate the role of hs‐cTn in monitoring early‐stage FC to ...
Subadra Wanninayake, Tejas Kalaria, Antonio Ochoa‐Ferraro, Ashwin Roy, Richard Steeds, Tarekegn Geberhiwot, Charlotte Dawson   +6 more
wiley   +1 more source

Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients

BMC Pharmacology and Toxicology, 2017
Background Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.
Kazuya Tsuboi, Hiroshi Yamamoto
doaj   +1 more source

The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease

BMC Nephrology
Anderson-Fabry disease (AFD) is a multisystem X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A (α-Gal A). This deficiency results in the intracellular accumulation of glycosphingolipids, primarily uncleaved ...
Gian Marco Berti, Valeria Aiello, Gisella Vischini, Sarah Lerario, Francesca Ciurli, Marisa Santostefano, Vincenzo Donadio, Elena Biagini, Michela Fresina, Benedetta Fabbrizio, Francesca Montanari, Daniela Turchetti, Gianandrea Pasquinelli, Renzo Mignani, Gaetano La Manna, Irene Capelli   +15 more
doaj   +1 more source

Gb3-Coated Bovine Milk Exosomes as a Practical Neutralizer for Shiga Toxin

, 2023
Shiga toxin (Stx) is associated with foodborne infections of some Shigella spp. and Shiga toxin-producing Escherichia coli (STEC), leading to life-threatening hemolytic uremic syndrome (HUS).
Haofei Hong (3766324), Zhifang Zhou (1402630), Mingming Lu (2667502), Dan Li (106345), Yating Zhu (5702195), Han Lin (393647), Zhimeng Wu (1481236), Jie Shi (130059)   +7 more
core   +1 more source