Results 61 to 70 of about 1,308 (153)

Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH)

BMC Nephrology
Background and hypothesis Fabry disease (FD) is an X-linked inherited disorder with an estimated prevalence among the end-stage kidney disease (ESKD) population of 0.3% in men and 0.1% in women [1].
K.P. Ng, M. Sandhu, D. Banerjee, J.O. Burton, L. Crowley, T. Doulton, M.A. Hameed, R. Hamer, M. Menon, J. Nicholas, S.B. Ramakrishna, K. Shivakumar, T. Geberhiwot, I. Dasgupta   +13 more
doaj   +1 more source

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

Orphanet Journal of Rare Diseases, 2021
Purpose The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these with systemic
Yevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, Charlotte Aries, Nicole Muschol, Simon Dulz   +5 more
doaj   +1 more source

Fabry Disease Associated With Myelodysplastic Syndrome: Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This is the first reported case of Fabry disease (FD) coexisting with myelodysplastic syndrome (MDS). While the coexistence of FD and MDS may be incidental, the case underscores the importance of considering FD in patients with unexplained systemic and hematological abnormalities, particularly those with a family history.
Liping Zheng, Zhiwei Wu, Shuzhen Chen, Chunfa Weng, Junwei Huang, Jinzao Chen   +5 more
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

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

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

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
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

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
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