Results 51 to 60 of about 982 (163)

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

Molecular Genetics and Metabolism Reports, 2023
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by insufficient activity of α-galactosidase A (α-Gal A) encoded by GLA. The enzymatic defect causes the progressive accumulation of sphingolipids in various tissues and body fluids ...
Masanori Hirose, Sho Okada, Yoshio Kobayashi   +2 more
doaj   +1 more source

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma [PDF]

Clinica Chimica Acta, 2015
Recent data have shown that lyso-Gb3, the deacylated derivative of globotriaosylceramide (Gb3), is possibly involved in the pathogenesis of Fabry disease (FD) and might be a clinically useful biomarker of its metabolic load. To test this hypothesis, we assayed Gb3 and lyso-Gb3 and related analogs in plasma and/or urine samples of 12 clinically well ...
Susana Ferreira, Christiane Auray‐Blais, Michel Boutin, Paméla Lavoie, José Pedro L. Nunes, Elisabete Martins, Scott C. Garman, João Paulo Oliveira   +7 more
openalex   +3 more sources

Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross‐Sectional Multicentre Study

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Fabry disease (FD) is a rare, X‐linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This multicentre cross‐sectional study aimed to evaluate physical fitness and function in FD patients and investigate associations with ...
Nicola Vitturi, Giorgia Gugelmo, Andrea Gasperetti, Federica Duregon, Alessandro Dalmonico, Livia Lenzini, Sara Sponchiado, Gianni Carraro, Giacomo Marchi, Mattia Cominacini, Claudia Momentè, Federica Baciga, Claudia Baschirotto, Federica Caccia, Domenico Girelli, Andrea Ermolao, Gian Paolo Fadini, Yuri Battaglia   +17 more
wiley   +1 more source

The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China

Annals of Medicine
Objective Whereas a few studies have evaluated vestibular involvement in Fabry disease (FD), the relationship between vestibular/oculomotor abnormalities and disease-specific biomarkers remain unclear.
Yinglin Leng, Yawen Zhao, Hong Zhou, Xia Ling, Xia Wang, Guiping Zhao, Wei Zhang   +6 more
doaj   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

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

Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy

Circulation Journal, 2019
Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A ...
Satoshi Yamashita, Masao Saotome, Hiroshi Satoh, Jun Kajihara, Yusaku Mochizuki, Kimito Mizuno, Mamoru Nobuhara, Keisuke Miyajima, Azumi Kumazawa, Hiromutsu Tominaga, Hiroyuki Takase, Kei Tawarahara, Nobuyuki Wakahara, Masaki Matsunaga, Yasushi Wakabayashi, Yuji Matsumoto, Hajime Terada, Makoto Sano, Hayato Ohtani, Tsuyoshi Urushida, Hideharu Hayashi, Seiichi Ishii, Hiroki Maruyama, Yuichiro Maekawa   +23 more
openalex   +4 more sources

Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach

Life, 2022
(1) Background: As a lysosomal storage disorder, Fabry’s disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants.
Marco Angelo Monte, Massimiliano Veroux, Margherita Stefania Rodolico, Valentina Losi, Luigi Di Pino, Rita Bella, Giuseppe Lanza, Ines Paola Monte   +7 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