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Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease
Fabry disease is an X-linked lysosomal storage disorder caused by loss of alpha-galactosidase A (α-Gal A) activity and is characterized by...
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Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene
Fabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency...
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Targeting strategies with lipid vectors for nucleic acid supplementation therapy in Fabry disease: a systematic review
Fabry disease (FD) results from a lack of activity of the lysosomal enzyme α-Galactosidase A (α-Gal A), leading to the accumulation of...
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Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla−/− zebrafish model of Fabry disease
BackgroundFabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, resulting in reduced or lack of...
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Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families
BackgroundThe GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-onset Fabry disease phenotype with predominant cardiac...
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Age-related neuroimmune signatures in dorsal root ganglia of a Fabry disease mouse model
Pain in Fabry disease (FD) is generally accepted to result from neuronal damage in the peripheral nervous system as a consequence of excess lipid...
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Human kidney organoids reveal the role of glutathione in Fabry disease
Fabry disease is an X-linked lysosomal storage disease caused by a mutation in the galactosidase alpha (GLA) gene. Despite advances in therapeutic...
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Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system
ObjectivesTo explore the possibility of kidney organoids generated using patient derived human induced pluripotent stem cells (hiPSC) for modeling of...
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DNA methylation impact on Fabry disease
BackgroundFabry disease (FD) is a rare X-linked disease caused by mutations in GLA gene with consequent lysosomal accumulation of...
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Effects of agalsidase-β administration on vascular function and blood pressure in familial Anderson–Fabry disease
Fabry is an X-linked disorder of glycosphingolipid metabolism that is caused by variants of the GLA gene that codes for α-galactosidase A, leading to...
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A long-term neuropsychological evaluation in Fabry disease
Fabry disease (FD) is a X-linked multi-systemic metabolic disorder with mainly renal, cardiac and neurological dysfunction. The neuropsychological...
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Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
PurposeTo assess the utility of globotriaosylsphingosine (lyso-Gb 3 ) for clinical monitoring of treatment response in patients with Fabry disease...
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Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data
The treatment options for Fabry disease (FD) are enzyme replacement therapy (ERT) with agalsidase alfa or beta, and the oral pharmacological...
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Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations
Fabry disease (FD) is a rare X-linked glycosphingolipidosis caused by mutations in GLA, a gene responsible for encoding α-galactosidase A, an enzyme...
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First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease
BackgroundFabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular...
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Development of vascular disease models to explore disease causation and pathomechanisms of rare vascular diseases
As the field of medicine is striving forward heralded by a new era of next-generation sequencing (NGS) and integrated technologies such as...
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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and...
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Fabry Disease
A 41-year-old male visited our hospital with proteinuria and hearing loss. The patient is Japanese, had never experienced pain attacks in the...
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The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in...
