Results 141 to 150 of about 9,057,553 (322)
redefining the pulvinar sign in fabry disease [PDF]
, 2017 BACKGROUND AND PURPOSE: The pulvinar sign refers to exclusive T1WI hyperintensity of the lateral pulvinar. Long considered a common sign of Fabry disease, the pulvinar sign has been reported in many pathologic conditions.
A. Brunetti +17 more
core +1 more source
Molecular Genetics and Metabolism Reports, 2021 Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Takahiro Tsukimura +5 more
doaj
Background-deflection Brillouin microscopy reveals altered biomechanics of intracellular stress granules by ALS protein FUS [PDF]
, 2018 Altered cellular biomechanics have been implicated as key photogenic triggers in age-related diseases. An aberrant liquid-to-solid phase transition, observed in in vitro reconstituted droplets of FUS protein, has been recently proposed as a possible ...
Antonacci, Giuseppe +3 more
core +3 more sources
Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. [PDF]
, 1979 R J Desnick +4 more
openalex +1 more source
Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week.
Journal of the American College of Cardiology, 2021 M. Pieroni +13 more
semanticscholar +1 more source
Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 2018 Background Because systemic inflammation and endothelial dysfunction lead to heart failure with preserved ejection fraction, we characterized plasma levels of inflammatory and cardiac remodeling biomarkers in patients with Fabry disease (FD). Methods and
Haran Yogasundaram +8 more
semanticscholar +1 more source
P-475: Uncontrolled hypertension in Fabry disease [PDF]
, 2017 Fabry disease is a x-linked lysosomal storage disease leading to early death related to renal, cardiac, and cerebrovascular disease. Therefore, proper diagnosis and therapy of elevated blood pressure may improve morbidity and mortality of these patients.
Beck, Michael +10 more
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Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia. [PDF]
, 1978 Matthew W. Spence +6 more
openalex +1 more source
Cardiac Phenotype of Prehypertrophic Fabry Disease
Circulation Cardiovascular Imaging, 2018 Background: Fabry disease (FD) is a rare and treatable X-linked lysosomal storage disorder. Cardiac involvement determines outcomes; therefore, detecting early changes is important.
S. Nordin +15 more
semanticscholar +1 more source
Fabry disease: will markers of early disease enable early treatment and better outcomes? [PDF]
, 2016 PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women
Hughes, DA
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