Results 111 to 120 of about 1,106 (130)

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease. [PDF]

Clin Sci (Lond)
Sudhindar PD, Orr SE, Miller-Hodges E, Molinari E, Wood K, Srivastava S, Miles CG, Mabillard HR, Sentell ZT, Trevisan-Herraz M, Arcila-Galvis JE, Sayer JA.   +11 more
europepmc   +1 more source

Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement. [PDF]

Int J Mol Sci
Veldman BCF, Schoenmakers DH, van Dussen L, Datema MR, Langeveld M.   +4 more
europepmc   +1 more source

Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response.

Nephron
Živná M, Živná M, Lenders M, Kmoch S.   +3 more
europepmc   +1 more source

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat [PDF]

New England Journal of Medicine, 2016
BACKGROUND: Fabry’s disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs.
Jay Barth, Roser Torra, David J Lockhart
exaly   +6 more sources

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study [PDF]

Genetics in Medicine, 2019
PURPOSE: Outcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated by phenotype. METHODS: Data were evaluated in two subgroups of patients with migalastat-amenable GLA variants: "classic ...
Jay Barth, Roberto Giugliani, Kathleen Nicholls   +2 more
exaly   +5 more sources

Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?

Healthcare, 2023
Fabry disease is a lysosomal storage disorder caused by the deficiency of the α-galactosidase-A enzyme. The result is the progressive accumulation of complex glycosphingolipids and cellular dysfunction.
Fernando Perretta, Sebastián Jaurretche
exaly   +2 more sources

Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study [PDF]

Molecular Genetics and Metabolism, 2020
Results from the 18-month randomized treatment period of the phase 3 ATTRACT study demonstrated the efficacy and safety of oral migalastat compared with enzyme replacement therapy (ERT) in patients with Fabry disease who previously received ERT. Here, we
Jay Barth, Kathleen Nicholls, Ulla Feldt-Rasmussen   +2 more
exaly   +3 more sources

Fabry disease Enzyme Enhancement on migalastat Study: FEES [PDF]

Clinica Chimica Acta
Background: There is limited information on the alpha-galactosidase A (alpha-Gal-A) in vivo response in Fabry patients receiving migalastat. In this single centre study, we evaluated changes from baseline in alpha-Gal A activity, lyso-Gb3 and other ...
Uma Ramaswami, Simona D’Amore, Simon Heales   +2 more
exaly   +2 more sources

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Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study

Molecular Genetics and Metabolism, 2023
Nurcan Üçeyler, Christoph Wanner
exaly  

Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice

Clinical Pharmacology in Drug Development, 2021
Anibh M Das, Raphael Schiffmann, Richie Khanna   +2 more
exaly