Results 71 to 80 of about 4,991,114 (167)

Current and Investigational Therapeutics for Fabry Disease

Kidney International Reports, 2020
Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme α-galactosidase (α-GAL). This in turn leads to the buildup of globotriaosylceramide, resulting classically in progressive kidney disease ...
Andrew Felis, Michael Whitlow, Abigayle Kraus, David G. Warnock, Eric Wallace   +4 more
doaj   +1 more source

Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation of the X chromosome. While most of the identified variants are deleterious for GLA, in some cases, less rare gene variants have been ...
Antonina Giammanco, Carola Maria Gagliardo, Chiara Scrimali, Federica Brucato, Teresa Maria Grazia Fasciana, Maurizio Averna, Angelo Baldassare Cefalu, Davide Noto   +7 more
wiley   +1 more source

Podocituria en pacientes pediátricos con enfermedad de Fabry

Nefrología, 2019
Resumen: Introducción: La enfermedad de Fabry (EF) es un trastorno hereditario causado por una deficiencia de la actividad de la enzima α-galactosidasa A, cuya transmisión está relacionada con el cromosoma X. Objetivos: Los objetivos del estudio fueron:
Miguel Liern, Anabella Collazo, Maylin Valencia, Alejandro Fainboin, Lorena Isse, Cristian Costales-Collaguazo, Federico Ochoa, Graciela Vallejo, Elsa Zotta   +8 more
doaj   +1 more source

Historical Control Analysis Demonstrates Greater Long‐Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
ABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Dominique P. Germain, Pronabesh DasMahapatra, Shiguang Liu, Patrick Deegan, Alberto Ortiz, Vijay Modur, William R. Wilcox   +6 more
wiley   +1 more source

Aortic remodelling in Fabry disease [PDF]

, 2017
Aims To evaluate thoracic aortic dilation in patients with Fabry disease (FD). Methods and results A cohort of 106 patients with FD (52 males; 54 females) from three European centres were studied.
Barbey, Frédéric, Jeanrenaud, Xavier, Juli, Christoph, Eckhardt, Boris, Qanadli, Salah D., Palaček, Tomáš, Rizzo, Elena, Brakch, Noureddine, Linhart, Aleš   +8 more
core  

Value of Left Ventricular Feature Tracking Strain Analysis for Detection of Early Cardiac Involvement in Fabry Disease (FD). [PDF]

J Clin Med, 2021
Roller FC, Brose A, Richter M, Schüssler A, Harth S, Tanislav C, Krombach GA.   +6 more
europepmc   +1 more source

Podocyturia in pediatric patients with Fabry disease

Nefrología (English Edition), 2019
Introduction: Fabry disease (FD) is a hereditary disorder caused by a deficiency of α-galactosidase A enzyme activity. The transmission of the disorder is linked to the X chromosome. Objectives: The objectives of the study were: 1.
Miguel Liern, Anabella Collazo, Maylin Valencia, Alejandro Fainboin, Lorena Isse, Cristian Costales-Collaguazo, Federico Ochoa, Graciela Vallejo, Elsa Zotta   +8 more
doaj   +1 more source

Neurological complications of Anderson-Fabry disease [PDF]

, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Simonetta I, Arnao, Valentina, PINTO, Antonio, Miceli S, TUTTOLOMONDO, Antonino, LICATA, Giuseppe, Pecoraro R   +6 more
core   +1 more source

Fabry Disease Associated With Myelodysplastic Syndrome: Case Report

Clinical Case Reports
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 ...
Liping Zheng, Zhiwei Wu, Shuzhen Chen, Chunfa Weng, Junwei Huang, Jinzao Chen   +5 more
doaj   +1 more source

Non‐Pulmonary Vein Substrate Ablation of Recurrent Atrial Fibrillation in the Patient With Fabry Disease

Clinical Case Reports
Fabry disease (FD) is a rare disease that progressively causes myocardial degeneration. There are only a few low‐voltage areas, but some fractionated potentials are present in the left atrium of FD patients with atrial fibrillation (AF).
Koumei Onuki, Kenichi Hiroshima, Akihiro Isotani, Masato Fukunaga, Michio Nagashima, Kenji Ando   +5 more
doaj   +1 more source