Results 91 to 100 of about 1,308 (153)

Correction: Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. [PDF]

Genet Med, 2021
Bichet DG, Aerts JM, Auray-Blais C, Maruyama H, Mehta AB, Skuban N, Krusinska E, Schiffmann R.   +7 more
europepmc   +1 more source

P023: The clinical utility of plasma Lyso-Gb3 in the diagnosis of Fabry disease in infants and adults

Genetics in Medicine Open, 2023
Wenjiao Li, Brandon Stauffer, Hongjie Chen, Jing Xiao, Yu Leng Phua, Neal Cody, Lisa Edelmann, Ruth Kornreich, Robert Desnick, Chunli Yu   +9 more
openaire   +2 more sources

Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid-Liquid Extraction Combined with LC-MS/MS. [PDF]

ACS Omega
Canbay E, Uzun Ç, Akçay Y, Canda E, Yazıcı H, Kalkan Uçar S, Çoker M, Yıldırım Sözmen E.   +7 more
europepmc   +1 more source

Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology. [PDF]

Dis Model Mech
Elsaid H, Furriol J, Eikrem Ø, Tøndel C, Svarstad E.   +4 more
europepmc   +1 more source

Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects. [PDF]

Mol Genet Metab Rep
Munakata M, Iwamoto T, Chen W, Akiyama K, Eto Y.   +4 more
europepmc   +1 more source

Case Report: Is it COPD? It is Fabry disease: a case in which bronchodilators were briefly used but not continued, prioritizing enzyme replacement therapy. [PDF]

Front Pharmacol
Li Y, Zhu H, Zhan Z, Li G, Huang S, Xiao C, Li Y, Zheng C, Huang F.   +8 more
europepmc   +1 more source

Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease. [PDF]

Cells
Simonetta I, Baglio I, Tuttolomondo A.
europepmc   +1 more source

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience. [PDF]

Mol Genet Metab Rep
McCarron EP, Chinnadurai R, Stepien KM, Bassett J, Meyer J, Sharma R, Woolfson P, Jovanovic A.   +7 more
europepmc   +1 more source

A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy. [PDF]

Kidney Med
Oka M, Suzuki R, Akasaka T.
europepmc   +1 more source

Concurrent fabry disease and monoclonal gammopathy of renal significance: a case report. [PDF]

BMC Nephrol
Li XY, Chen QN, Fang JN, Zeng ZC, Pan Y.
europepmc   +1 more source