Results 31 to 40 of about 2,063 (198)
Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs [PDF]
Frontiers in Cardiovascular MedicineFemales with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo +12 more
doaj +2 more sources
Molecular Genetics and Metabolism Reports, 2023 Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Atsumi Taguchi +3 more
doaj +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 +1 more source
Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. [PDF]
PLoS ONE, 2015 Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium.
Yeo Jin Jeon +4 more
doaj +1 more source
Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model
Journal of Lipid Research, 2020 Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3 ...
Siamak Jabbarzadeh-Tabrizi +6 more
doaj +1 more source
Genetics in Medicine Open, 2023 In 2016, a systematic review and a meta-analysis of existing data on the effects of switch from agalsidase beta to alfa in patients with Fabry disease showed that the switch was well tolerated and associated with stable disease progression.
Eleonora Riccio +8 more
doaj +1 more source
A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice [PDF]
Kidney Research and Clinical Practice, 2023 Background Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for ...
Soo Jeong Choi +11 more
doaj +1 more source
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease [PDF]
, 2012 The X-chromosomal-linked lysosomal storage disorder Fabry disease can lead to life-threatening manifestations. The pathological significance of the Fabry mutation D313Y is doubted, because, in general, D313Y patients do not present clinical manifestations conformable with Fabry disease.
Markus Niemann +7 more
openalex +4 more sources
Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis. [PDF]
Anal Sci AdvABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Thaitumu M +3 more
europepmc +2 more sources