Results 81 to 90 of about 982 (163)

Commentary on ‘Lentivirus‐mediated gene therapy for Fabry disease: 5‐year end‐of‐study results from the Canadian FACTS trial’

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 1080-1095, September 2024.
Abstract Fabry Registry data were analyzed among 83 agalsidase beta‐treated patients with Fabry disease who switched to migalastat. Outcomes (estimated glomerular filtration rate [eGFR], urine protein‐creatinine ratio [UPCR], plasma globotriaosylceramide [GL‐3], plasma globotriaosylsphingosine [lyso‐GL‐3], interventricular septal wall thickness [IVST],
Antonio Pisani, Kathryn M. Wilson, Julie L. Batista, Ilkka Kantola, Alberto Ortiz, Juan Politei, Laila Al‐Shaar, Manish Maski, Ana Crespo, Elvira Ponce, Aleš Linhart   +10 more
wiley   +1 more source

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene

Molecular Genetics and Metabolism Reports, 2019
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A). The clinical variability of the phenotypes of Fabry disease in females is still poorly understood.
Mohammad Arif Hossain, Chen Wu, Hiroko Yanagisawa, Takashi Miyajima, Keiko Akiyama, Yoshikatsu Eto   +5 more
doaj   +1 more source

The FACTs trial for Fabry disease highlights the promise and challenges of gene therapy

Clinical and Translational Discovery, Volume 5, Issue 1, February 2025.
Jeffrey A. Medin, Michael L. West
wiley   +1 more source

Preclinical efficacy and safety of adeno-associated virus 5 alpha-galactosidase: A gene therapy for Fabry disease

Molecular Therapy: Methods & Clinical Development
We developed a novel adeno-associated virus 5 gene therapy (AAV5-GLA) expressing human alpha-galactosidase A (GLA) under the control of a novel, small and strong, liver-restricted promoter.
Jolanda M.P. Liefhebber, Giso Brasser, Elisabeth A. Spronck, Roelof Ottenhoff, Lieke Paerels, Maria J. Ferraz, Lukas K. Schwarz, Nikoleta Efthymiopoulou, Chi-Lin Kuo, Paula S. Montenegro-Miranda, Melvin M. Evers, Johannes M.F.G. Aerts, Ying Poi Liu   +12 more
doaj   +1 more source

Globotriaosylceramide and globotriaosylsphingosine mediated epithelial‐to‐mesenchymal transition in kidney cells: implication for Fabry disease nephropathy (600.1)

The FASEB Journal, 2014
Fabry disease is a lysosomal storage disorder caused by deficiency of α‐galactosidase A (α‐gal A), resulting in deposition of globotriaosylceramide (Gb3) in the vascular endothelium. Deacylated Gb3, globotriaosylsphingosine (lyso‐Gb3), also accumulated in the tissues of Fabry disease patients.
Yeo‐Jin Jeon, Namhee Jung, Sung‐Chul Jung   +2 more
openaire   +1 more source

Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients

BMC Pharmacology and Toxicology, 2017
Background Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.
Kazuya Tsuboi, Hiroshi Yamamoto
doaj   +1 more source

Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography–Tandem Mass Spectrometry [PDF]

, 2012
Henrik Gold, Mina Mirzaian, Nick Dekker, María Pía Ferraz, Johan Lugtenburg, Jeroen D. C. Codée, Gijs A. van der Marel, Herman S. Overkleeft, Gabor E. Linthorst, J.E.M. Groener, Johannes M. F. G. Aerts, Ben J. H. M. Poorthuis   +11 more
openalex   +1 more source

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots

Biomolecules
Background: Early detection of sphingolipidoses is crucial to prevent irreversible complications and improve patient outcomes. The use of urine samples dried on filter paper (DUS) is a non-invasive strategy that simplifies the collection, storage, and ...
Tristan Martineau, Bruno Maranda, Christiane Auray-Blais   +2 more
doaj   +1 more source

Epithelial-mesenchymal transition in kidney tubular epithelial cells induced by globotriaosylsphingosine and globotriaosylceramide [PDF]

, 2018
Jeon Jeon, Jung, Park
openalex