Results 211 to 220 of about 134,977 (268)

Perivascular spaces and basilar artery remodeling in Fabry disease-a dual vascular pathology. [PDF]

Front Neurol
Roh J, Cheon CK, Lee SY, Baik SK, Park MG, Park KP, Ahn SH.   +6 more
europepmc   +1 more source

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension. [PDF]

Nat Commun
Nordbeck P, Goker-Alpan O, Bernat JA, Germain DP, Giraldo P, Jovanovic A, Kimonis V, Nicholls K, Rockman-Greenberg C, Schiffmann R, Thomas M, Tylki-Szymanska A, Wallace E, Welford RWD, West ML, Clozel M, Frey A, Trokan L, Mueller MS, Vogler M, Wanner C, Hughes D.   +21 more
europepmc   +1 more source

Clinical Practice of Multidisciplinary Team-Guided Comprehensive Management for Pediatric Patients with Fabry Disease: A Single-Center Case Series. [PDF]

J Multidiscip Healthc
Liu Y, Liu X, Yang M, Wang Q, Xu W, Zeng J, Han T, Mao H, Qian S.   +8 more
europepmc   +1 more source

Clinical outcomes in Fabry patients switching to agalsidase beta for renal ineffectiveness of the primary Fabry therapy: a single-centre analysis. [PDF]

Clin Kidney J
Riccio E, Capuano I, Buonanno P, Iaccarino G, Cirami CL, Mignani R, Pieruzzi F, Pisani A.   +7 more
europepmc   +1 more source

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development. [PDF]

Front Pharmacol
Gómez-Cebrián N, Trull MC, Gras-Colomer E, Edo Solsona MD, Poveda Andrés JL, Puchades-Carrasco L.   +5 more
europepmc   +1 more source

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Fabry's disease

Lancet, The, 2008
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. The consequent abnormal accumulation of glycosphingolipids results in several clinical signs and symptoms and substantial morbidity and mortality.
Yuri A Zarate, Robert J Hopkin
exaly   +3 more sources