Results 61 to 70 of about 982 (163)

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

Molecular Genetics and Metabolism Reports, 2020
Enzyme replacement therapy (ERT) has been shown to stabilize certain aspects of Fabry disease (FD). However, in some patients on ERT, high antibody titres have been documented, with limited clinical improvement in systemic manifestations and often with ...
Aizeddin A. Mhanni, Christiane Auray-Blais, Michel Boutin, Alie Johnston, Kaye LeMoine, Jill Patterson, Johannes M.F.G. Aerts, Michael L. West, Cheryl Rockman-Greenberg   +8 more
doaj   +1 more source

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

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2020
Enzyme replacement therapy (ERT) for Fabry disease (deficiency of α-galactosidase A, α-Gal) with recombinant α-Gals (agalsidase alfa and agalsidase beta) is widely available and improves some of the clinical manifestations and biochemical findings ...
Takahiro Tsukimura, Yuya Tayama, Tomoko Shiga, Kanako Hirai, Tadayasu Togawa, Hitoshi Sakuraba   +5 more
doaj   +1 more source

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. [PDF]

PLoS Genetics, 2013
Fabry disease (FD) is an X-linked hereditary defect of glycosphingolipid storage caused by mutations in the gene encoding the lysosomal hydrolase α-galactosidase A (GLA, α-gal A).
Jan Lukas, Anne-Katrin Giese, Arseni Markoff, Ulrike Grittner, Ed Kolodny, Hermann Mascher, Karl J Lackner, Wolfgang Meyer, Phillip Wree, Viatcheslav Saviouk, Arndt Rolfs   +10 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

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

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

Fabry disease and incidence of cancer

Orphanet Journal of Rare Diseases, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including ...
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes   +4 more
doaj   +1 more source

Uprising Unconventional Nanobiomaterials: Peptoid Nanosheets as a Multi‐Modular Platform for Advanced Biological Studies

Small, Volume 21, Issue 9, March 5, 2025.
Peptoid nanosheets, bio‐inspired nanomaterials, are gaining attention for their potential in biological studies. This review explores their unique assembly mechanisms, versatile chemical properties, and tunable functionalities. Emphasis is placed on their applications in biology highlighting the advantages of peptoid nanosheets over other nanomaterials.
Gustavo Carretero, Hettikankanamge Kalani Samarasekara, Alessia Battigelli, Biljana Mojsoska   +3 more
wiley   +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