Results 51 to 60 of about 1,271 (166)

Case Report: First Two Identified Cases of Fabry Disease in Central Asia

Frontiers in Genetics, 2021
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly ...
Francesca Cainelli, Francesca Cainelli, Dias Argandykov, Dauren Kaldarbekov, Murat Mukarov, Liên Tran Thi Phuong, Dominique P. Germain, Dominique P. Germain, Dominique P. Germain   +8 more
doaj   +1 more source

Evaluating the Metabolic Basis of α-Gal A mRNA Therapy for Fabry Disease

Biology
mRNA injection-based protein supplementation has emerged as a feasible treatment for Fabry disease. However, whether the introduction of LNP-encapsulated mRNA results in the alteration of metabolomics in an in vivo system remains largely unknown.
Zhendong Zhang, Qi Liu, Zhiwen Deng, Jun Liu, Shuang Li, Mei Hong, Yucai Peng   +6 more
doaj   +1 more source

Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels

Clinical Journal of the American Society of Nephrology, 2023
Background Fabry disease is a very heterogeneous X-linked lysosomal storage disease. Disease manifestations in the kidneys, heart, and brain vary greatly, even between patients of the same sex and with the same disease classification (classical or nonclassical).
Sanne J. van der Veen, Mohamed el Sayed, Carla E.M. Hollak, Marion M. Brands, C. Khya S. Snelder, S. Matthijs Boekholdt, Liffert Vogt, Susan M.I. Goorden, André B.P. van Kuilenburg, Mirjam Langeveld   +9 more
openaire   +3 more sources

N215S correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and age for males (blue; n = 13) and females (red; n = 26).

, 2018
N215S correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and age for males (blue; n = 13) and females (red; n = 26).
B. Beaton (5066303), D. A. Hughes (5066294), U. Ramaswami (5066297), A. S. Thomas (5066300), H. Ebrahim (5066309), P. Elliott (1293702), M. Reed (4855099), A. B. Mehta (5066306), L. Lavalle (5066291)   +8 more
core   +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

Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease

Experimental and Therapeutic Medicine, 2018
Although plasma globotriaosylsphingosine (lyso-Gb3) is a promising biomarker of Fabry disease (FD), few studies have assessed the impact of lyso-Gb3 in patients with FD. A total of 38 patients diagnosed with FD at Ruijin Hospital between January 2012 and December 2014 were recruited in the current study.
Ouyang, Yan, Chen, Bing, Pan, Xiaoxia, Wang, Zhaohui, Ren, Hong, Xu, Yaowen, Ni, Liyan, Yu, Xialian, Yang, Li, Chen, Nan   +9 more
openaire   +3 more sources

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Occurrence of infusion associated reactions and anti‐drug antibodies in enzyme replacement therapy for Fabry disease and the effect of preventive measures. ABSTRACT Male patients with the classical phenotype of Fabry disease (FD) are at risk of developing inhibiting antidrug antibodies (iADAs) against recombinant α‐galactosidase‐A, administered in the ...
Maud Janssens, Sanne J. van der Veen, Laura van Dussen, André B. P. van Kuilenburg, Marion M. M. G. Brands, Mirjam Langeveld   +5 more
wiley   +1 more source

Signal Peptide Engineering and Codon Optimization to Enhance α‐Gal A Activity for rAAV Gene Therapy of Fabry Disease

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Fabry disease is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A (α‐Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso‐Gb3) in various organs.
Siwu He, Li Yang, Ke Wan, Zhaoyue Zheng, Mi Leng, Chunmei Gan, Yu Liu, Lin Xiao, Jingya Ye, Zhian Chen, Jiao Zhou, C. Alexander Valencia, Aliah Abuammah, Hoi Yee Chow, Biao Dong, Yucheng Chen   +15 more
wiley   +1 more source

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

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