Fabry Disease (FD), a rare and progressive, X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A (GLA) gene which leads to enzymatic deficiency of GLA. Misdiagnosed and undiagnosed FD cases are common for the variable FD phenotype, ranging from asymptomatic and/or impairment of single organs, which is typically...
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2021 (v1)PublicationUploaded on: April 14, 2023
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2018 (v1)Publication
Objective To investigate the role of alcohol as a causal factor for intracerebral hemorrhage (ICH) and whether its effects might vary according to the pathogenic mechanisms underlying cerebral bleeding. Methods We performed a case-control analysis, comparing a cohort of consecutive white patients with ICH aged 55 years and older with a group of...
Uploaded on: April 14, 2023