Results 61 to 70 of about 7,193 (177)

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source

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

Effect of α-gal A on the expression of EMT markers induced by Gb3 and lyso-Gb3.

, 2015
(A) Immunoblotting analysis of expression of TGF-β and EMT markers induced by Gb3 (30 μM and 45 μM, respectively) in HK2 cells with or without α-gal A (10 μg/ml). (B) Immunoblotting analysis of expression of TGF-β and EMT markers induced by lyso-Gb3 (200
Sung-Chul Jung (785337), Hae-Young Park (785336), Joo-Won Park (785335), Namhee Jung (589929), Yeo Jin Jeon (785334)   +4 more
core   +1 more source

Inflammation and genetics in myo‐pericardial diseases: Insights from the Italian Study Group on Cardiomyopathies and Pericardial Diseases

ESC Heart Failure, Volume 12, Issue 6, Page 3987-3999, December 2025.
Proposed management of myo‐pericardial diseases. A systematic interdisciplinary approach to myo‐pericardial disease is essential to reach a correct diagnosis, starting from multiparametric characterization including EKG, echocardiography with GLS, laboratory exams and CMR or, in case of electric or haemodynamic instability, EMB.
Marco Merlo, Giulia Bassetto, Antonio Cannatà, Alberto Aimo, Camillo Autore, Barbara Bauce, Elena Biagini, Francesco Cappelli, Silvia Castelletti, Flavio D'Ascenzi, Cesare de Gregorio, Giuseppe Limongelli, Francesca Marzo, Beatrice Musumeci, Giacomo Tini, Roberto Pedrinelli, Pasquale Perrone Filardi, Gianfranco Sinagra, Massimo Imazio   +18 more
wiley   +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

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

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

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: development of a plasma lysoglobotriaosylceramide (lyso-Gb3) assay method by LC-MS/MS

, 2023
La maladie de Fabry est une maladie métabolique d’origine génétique entrainant une atteinte multisystémique progressive. L’altération du gène GLA codant pour l'α-galactosidase A conduit à une accumulation lysosomale de glycolipides et en particulier de ...
GUIBET, Claire
core  

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