Results 71 to 80 of about 1,271 (166)
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 +5 more
wiley +1 more source
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 +8 more
doaj +1 more source
Clinica Chimica ActaKidney damage is common in patients with Fabry disease (FD), but more accurate information about the risk of progression to kidney failure is needed for clinical decision-making. In particular, FD patients with mild renal involvement often lack timely intervention and treatment. We aimed to utilize a model to predict the risk of renal progression in FD
Yan, Ouyang +19 more
openaire +2 more sources
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 +4 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 +5 more
doaj +1 more source
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A) [PDF]
, 2013 BackgroundPrevious studies revealed a high incidence of late-onset Fabry disease mutation, IVS4+919G>A, in Taiwan. However, the natural course is largely unclear and suitable biomarkers for monitoring disease progress are unavailable.Methods and ...
Chiang, Chuan-Chi +21 more
core +1 more source
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 +3 more
wiley +1 more source
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 +11 more
wiley +1 more source
Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy
罕见病研究Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene. It leads to reduced or complete deficiency of the activity of α-galactosidase A (α-Gal A), resulting in an accumulation of the metabolic substrate ...
Chinese Society of Cardiology +1 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused ...
Derralynn A. Hughes +16 more
wiley +1 more source