Results 111 to 120 of about 1,308 (153)

Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study. [PDF]

Orphanet J Rare Dis
Holida M, Linhart A, Longo N, Wallace E, Tøndel C, Hughes D, Warnock DG, Pisani A, Eyskens F, Deegan P, Feldt-Rasmussen U, Goker-Alpan O, Mehta A, Piotti G, Fichera V, Wang M, Chertkoff R, Waldek S, Wilcox WR, Bernat JA.   +19 more
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report. [PDF]

Mol Genet Metab Rep
Vitturi N, Gugelmo G, Zanini F, Carraro G, Lenzini L, Leonardi A.   +5 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

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results. [PDF]

Int J Mol Sci
Van Baelen A, Verhulst S, Eyskens F.
europepmc   +1 more source

Therapeutic landscape of Fabry disease: advances and challenges from classical strategies to emerging therapies. [PDF]

Front Med (Lausanne)
Zhang M, Wang C.
europepmc   +1 more source

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Agreement of dried blood spot lyso-Gb3 concentrations obtained from different laboratories in patients with Fabry disease

Clinical Chemistry and Laboratory Medicine, 2020
Gerald Mundigler, Paulus Stefan Rommer, Senta Graf   +2 more
exaly   +3 more sources

LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease

Clinica Chimica Acta, 2012
Fabry disease is a complex, multisystemic and clinically heterogeneous disease, with elevated excretion of globotriaosylceramide (Gb(3)) and globotriaosylsphingosine (lyso-Gb(3)) accumulating in biological fluids caused by deficiency of the enzyme, lysosomal α-galactosidase A.
Michel, Boutin, René, Gagnon, Pamela, Lavoie, Christiane, Auray-Blais   +3 more
openaire   +2 more sources

B-204 Determination of Lyso-GB3 in Dried Blood Spots: A Useful Biomarker for Fabry Disease

Clinical Chemistry, 2023
Abstract Background Fabry disease, an X-linked inborn error of metabolism, results from pathogenic mutations in the α-galactosidase A gene (GLA). These mutations reduce or abolish the α-galactosidase A activity, which result in accumulation of glycosphingolipids in the lysosomes, including ...
B F Paulo, E M Novo, D A Zauli, A P Serra   +3 more
openaire   +1 more source