Results 121 to 130 of about 1,271 (166)

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

Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease. [PDF]

Orphanet J Rare Dis
Lenders M, Nowak A, Cybulla M, Kaufeld J, Köhn AF, Muschol NM, Kurschat C, Brand E.   +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

ECG parameters to detect cardiac involvement in Fabry disease. [PDF]

BMC Cardiovasc Disord
Wang Y, Kong J, Wang J, Zhao R, Wang H, Zhu JF, Zhou BY, Ma CS, Zou C, Jiang TB, Fan JL, Sun SJ.   +11 more
europepmc   +1 more source

Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation. [PDF]

Front Immunol
Yuan Y, Zhang X, Zhao Y, Wang Y, Huang J, Wang Q, Song X, Deng J, Wang Z, Yuan Y, Zhang W.   +10 more
europepmc   +1 more source

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II. [PDF]

Int J Mol Sci
Terawaki S, Nakanishi H, Shibuya T, Sakai N, Otomo T.   +4 more
europepmc   +1 more source

Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy. [PDF]

Biomedicines
Weiner S, Perleth S, Schäfer Gómez C, Kampf T, Lau K, Hessenauer F, Homola G, Nordbeck P, Üçeyler N, Sommer C, Pham M, Schindehütte M.   +11 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

Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant. [PDF]

BMC Med Genomics
Ge Z, Mao J, Dai Z, Pan X, Lin K, Lu Z, Yang M, Lai T, Zhang H, Gong H, Li G, Hu Z.   +11 more
europepmc   +1 more source

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing. [PDF]

BMC Cardiovasc Disord
Arad M, Chaves AVF, Antunes M, Bakhsh A, Berger KI, Fat TH, Alves da Fonseca A, Furtado A, Maksimova I, Marques E Silva S, Maski M, Monjes E, Murillo Benitez NE, Ortuño Campos E, Ribeiro MG, Rodriguez-González MJ, Yu WC, Onay H.   +17 more
europepmc   +1 more source