Results 21 to 30 of about 4,991,114 (167)

Otological aspects of Fabry disease in patients with normal hearing [PDF]

, 2019
2019-08We investigated the otological aspects of Fabry disease (FD) in patients with normal hearing. Forty-one patients (21 men, 20 women) with bilaterally normal hearing were recruited, and their otological symptoms and hearing evaluations, which ...
Sone, Michihiko, Wang, Fei, Sugimoto, Satofumi, Yamamoto, Hiroshi, Teranishi, Masaaki, Tsuboi, Kazuya, Yoshida, Tadao   +6 more
core   +1 more source

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients. [PDF]

J Inherit Metab Dis
ABSTRACT Fabry disease (FD, OMIM 301500) is an X‐linked lysosomal storage disorder caused by deficient activity of lysosomal alpha‐galactosidase A (AGAL, E.C. 3.2.1.22) due to pathogenic variants in the GLA gene (HGNC:4296, Xq22.1). Plasmatic deacylated globotriaosylceramide (lysoGb3) is elevated in FD patients as a reflection of lysosomal accumulation
Kuchar L, Dvorakova L, Berna L, Reboun M, Slavikova P, Bakalar R, Ledvinova J, Poupetova H, Ruzicka P, Befekadu A, Dostalova G, Reichmannova S, Linhart A, Sikora J.   +13 more
europepmc   +2 more sources

Update on role of agalsidase alfa in management of Fabry disease [PDF]

, 2011
Uma RamaswamiPaediatric Metabolic Unit, Cambridge University Hospitals, Cambridge, UKAbstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women.
Uma Ramaswami
core   +1 more source

Enzyme replacement therapy for Fabry disease: some answers but more questions [PDF]

, 2011
Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of ...
Majid Alfadhel, Sandra Sirrs
core   +1 more source

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, Volume 138, Issue 41, 5 October 2026.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources

Blood Pressure Variability in Fabry Disease Patients

, 2022
Introduction: Fabry disease is a rare metabolic, multisystemic, and X-linked lysosomal storage disorder. The involvement of the autonomic nervous system is well defined; however, data on the variability of the blood pressure (BP) and heart rate in Fabry ...
Seyahi, Nurhan, Dincer, Mevlut Tamer, Trabulus, Sinan, Ikitimur, Baris, Bakir, Alev, Ozcan, Seyda Gul, Kiykim, Ertugrul   +6 more
core   +1 more source

Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del)

Stem Cell Research, 2023
Fabry disease (FD) is a lysosomal storage disorder caused by mutations in GLA gene. Here, GLA mutation (1268fs*1 (c.803_806del)) of FD iPSCs was corrected using the CRISPR-Cas9 gene editing system. The corrected (cor) FD-iPSCs retained normal morphology,
Jong Bin Choi, Donghyuk Seo, Hyo-Sang Do, Yong-Mahn Han   +3 more
doaj   +1 more source

Anderson-Fabry disease: a multiorgan disease. [PDF]

, 2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
PINTO, Antonio, TUTTOLOMONDO, Antonino, Simonetta I: Miceli S, LICATA, Giuseppe, Pecoraro R   +4 more
core   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]

J Inherit Metab Dis
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Saxena H, Domenis R, Romano G, Biasizzo J, Ferro M, Ferino D, Vicidomini A, Iaconcig A, Bortolussi G, Zentilin L, Dardis A, Muro AF.   +11 more
europepmc   +2 more sources

Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees [PDF]

, 2020
Background: Sporadic Parkinson's disease (PD) patients have lower α-galactosidase A (α-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD.
Gaspar, Paulo, Miltenberger-Miltenyi, Gabriel, Guimarães, Andreia, Lamas, Nuno J., Ferreira, Joaquim, Gago, Miguel Fernandes, Sousa, Nuno, Bicho, Estela, Azevedo, Olga, Oliveira, Tiago Gil, Teresa Vide, Ana   +10 more
core   +2 more sources