Results 51 to 60 of about 6,638 (157)

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort

European Journal of Neurology, Volume 32, Issue 11, November 2025.
A retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk.
David Moreno‐Martinez, Sara Lucas‐Del‐Pozo, Lucia Lavalle, Uma Ramaswami, Lionel Ginsberg, Guillem Pintos‐Morell, Derralynn A. Hughes   +6 more
wiley   +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

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  

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

Lyso-Gb3 modulates the gut microbiota and decreases butyrate production

, 2019
Parts of this work were previously presented at the 21st, 22nd, and 23rd Spanish Congress of Clinical Microbiology and Infectious Diseases, the 29th European Congress of Clinical Microbiology and Infectious Diseases, the 6th Update on Fabry Disease, and ...
Martínez-Cuesta, M. Carmen, Martínez-Cuesta, María Del Carmen, Esteban, Jaime, Peláez, Carmen, Sánchez-Niño, María Dolores, Requena, Teresa, Ortiz, Alberto, Aguilera-Correa, John-Jairo, Madrazo-Clemente, Patricia   +8 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

Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy

Cells, 2023
Fabry disease (FD) is a lysosomal disorder caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide (Gb-3) and its metabolite globotriaosylsphingosine (Lyso-Gb-3).
Margarita M. Ivanova, Julia Dao, Omar Abu Slayeh, Andrew Friedman, Ozlem Goker-Alpan   +4 more
doaj   +1 more source

Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial

Clinical and Translational Medicine, Volume 15, Issue 1, January 2025.
Durable 5‐year End‐of‐Study results from the ‘first‐in‐the‐world’ gene therapy trial for Fabry disease. Abstract Background Fabry disease is an X‐linked lysosomal storage disorder due to a deficiency of α‐galactosidase A (α‐gal A) activity. Our goal was to correct the enzyme deficiency in Fabry patients by transferring the cDNA for α‐gal A into their ...
Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin   +11 more
wiley   +1 more source

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Pegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, open‐label study in adults with Fabry disease, previously treated with agalsidase alfa or beta E2W for ≥3 ...
Myrl Holida, Aleš Linhart, Antonio Pisani, Nicola Longo, François Eyskens, Ozlem Goker‐Alpan, Eric Wallace, Patrick Deegan, Camilla Tøndel, Ulla Feldt‐Rasmussen, Derralynn Hughes, Anat Sakov, Rossana Rocco, Einat Brill Almon, Sari Alon, Raul Chertkoff, David G. Warnock, Stephen Waldek, William R. Wilcox, John A. Bernat   +19 more
wiley   +1 more source

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene

Molecular Genetics and Metabolism Reports, 2019
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A). The clinical variability of the phenotypes of Fabry disease in females is still poorly understood.
Mohammad Arif Hossain, Chen Wu, Hiroko Yanagisawa, Takashi Miyajima, Keiko Akiyama, Yoshikatsu Eto   +5 more
doaj   +1 more source