Results 101 to 110 of about 30,590 (168)

Genome sequencing reveals the prevalence of Fabry disease-causing variants in Japan: Evidence from the Tohoku Medical Megabank. [PDF]

Genet Med Open
Susukita K, Nochioka K, Takase M, Yamamoto S, Kumada K, Suzuki H, Ohneda K, Noguchi K, Izumi Y, Ogishima S, Nakaya N, Eto Y, Hozawa A, Yasuda S.   +13 more
europepmc   +1 more source

The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease. [PDF]

Int J Mol Sci
Nekrasova A, Kutsev S, Shestopalov A.
europepmc   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]

J Inherit Metab Dis
Saxena H, Domenis R, Romano G, Biasizzo J, Ferro M, Ferino D, Vicidomini A, Iaconcig A, Bortolussi G, Zentilin L, Dardis A, Muro AF.   +11 more
europepmc   +1 more source

Nucleoside-Modified mRNA Encoding Alpha-Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC-Derived Cardiomyocytes. [PDF]

Adv Sci (Weinh)
Juchem M, Oehlsen L, Ersoy S, Ye JL, Weber N, Mohr E, Agyapong W, Liu J, Fuchs M, Xiao K, Jahn C, Eggenschwiler R, Cantz T, Beimdiek J, Buettner FFR, Kraft T, Hegermann J, Knorr IJ, Ernst L, Feldbrügge L, Puffert R, Schmidt K, Bär C, Hoepfner J, Thum T.   +24 more
europepmc   +1 more source

Fabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient. [PDF]

Cureus
Joppich J, Mehta S, Mandavilli N, Rojas Alvarez F, Mehta V.   +4 more
europepmc   +1 more source

Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study. [PDF]

Int J Mol Sci
Peña-Rodríguez M, Bara-Ledesma N, Fabregate M, Morales Conejo M, Domínguez-Rodríguez F, Merino-Ortiz B, Stanescu S, Ruiz-Sala P, González García A, Belanger-Quintana A, López-Rodríguez M.   +10 more
europepmc   +1 more source

Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.

Kidney Blood Press Res
Eren N, Turkmen K, Turgut F, Tokgoz B, Inci A, Seyahi N.   +5 more
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

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

Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases. [PDF]

Medicina (Kaunas)
Atılgan KG, Aylı BI, Aylı MD.
europepmc   +1 more source