Results 101 to 110 of about 6,638 (157)

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

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy. [PDF]

Int J Mol Sci
Sung KT, Hsu CY, Lu YH, Hung CL, Niu DM.
europepmc   +1 more source

Impaired motor unit profile in Fabry disease: A quantitative electrophysiological study. [PDF]

Clin Neurophysiol Pract
Gunduz A, Akkan Suzan A, Dinçer MT, Özcan ŞG, Seyahi N.   +4 more
europepmc   +1 more source

Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report. [PDF]

Clin Case Rep
Koga N, Yodogawa H, Sawada T, Mushimoto Y, Nagamitsu S, Nakamura K, Hirose S, Inoue T.   +7 more
europepmc   +1 more source

Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment. [PDF]

Orphanet J Rare Dis
Graziani F, Biagini E, Argirò A, Citro R, Iaccarino G, Lanzillo C, Monte I, Pieruzzi F, Zuchi C, Pieroni M.   +9 more
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

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

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]

JACC Case Rep
Kalaria A, Farooq W, Kolupoti A, Meng J, Kim AS.   +4 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

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