Identification of patients with Fabry disease using routine pathology results: PATHFINDER (eGFR) study
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Clinical Practice"
DOI: 10.1111/ijcp.13672
Abstract: Lysosomal α‐galactosidase A deficiency (Fabry disease (FD)) was considered an X‐linked recessive disorder but is now viewed as a variable penetrance dominant trait. The prevalence of FD is 1 in 40 000‐117 000 but the… read more here.
Keywords: fabry disease; study; pathology; identification patients ... See more keywords
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107086
Abstract: Background Fabry disease is a rare X-linked lysosomal storage disease caused by mutations in the galactosidase α gene. Deficient activity of α-galactosidase A leads to glycosphingolipid accumulations in multiple organs. Circular RNAs represent strong regulators… read more here.
Keywords: fabry disease; patients fabry; hsa circ; circular rna ... See more keywords
Magnetic Resonance Imaging Findings Related to Stroke Risk in Japanese Patients With Fabry Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Stroke"
DOI: 10.1161/strokeaha.119.025528
Abstract: Background and Purpose- Stroke is the most frequent severe clinical event in patients with Fabry disease. We aimed to evaluate the cerebral magnetic resonance imaging findings of patients with Fabry disease and assess their association… read more here.
Keywords: fabry disease; imaging findings; resonance imaging; patients fabry ... See more keywords
Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Sign Up to like & getrecommendations! Published in 2017 at "Neurology"
DOI: 10.1212/wnl.0000000000004396
Abstract: Objective: To evaluate functional and morphometric magnetic resonance neurography of the dorsal root ganglion and peripheral nerve segments in patients with Fabry painful neuropathy. Methods: In this prospective study, the lumbosacral dorsal root ganglia and… read more here.
Keywords: root; root ganglion; dorsal root; nerve ... See more keywords
Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2023-0105
Abstract: Abstract Objectives Fabry disease is an X-linked lysosomal disorder caused by decreased or absent alpha galactosidase enzyme. The enzyme deficiency leads to progressive accumulation of globotriaosylceramide (Gb-3) and its deacetylated form lyso-Gb3 in various tissue… read more here.
Keywords: patients fabry; features patients; endocrinological immunological; metabolic features ... See more keywords