Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening [PDF]
Genetics in Medicine OpenAlessandro P. Burlina +9 more
openaire +2 more sources
From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series [PDF]
Frontiers in MedicineBackgroundFabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to progressive accumulation of globotriaosylceramide and Lyso-Gb3 across multiple organ systems.
Vlatko Karanfilovski +6 more
doaj +2 more sources
Novel GLA variant (c.752A>C; p.Glu251Ala) identified in a patient with Fabry cardiomyopathy and familial segregation [PDF]
Frontiers in Molecular BiosciencesBackgroundFabry disease (Anderson–Fabry disease,FD) is an X-linked lysosomal storage disorder caused by variants in GLA, resulting in α-galactosidase A (α-Gal A) deficiency and accumulation of globotriaosylsphingosine (lyso-Gb3), with frequent cardiac ...
Ting Zhang, Sulan Huang, Fan Huang
doaj +2 more sources
Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review [PDF]
Orphanet Journal of Rare DiseasesBackground Fabry disease is a lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of globotriaosylceramide (Gb3) and widespread tissue and organ damage. Enzyme replacement therapy
Patricio Aguiar +2 more
doaj +2 more sources
Pathogenic mechanisms in Fabry disease [PDF]
Frontiers in MedicineAnderson-Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), across multiple
Siming Wang, Chengyue Sun
doaj +2 more sources
ECG parameters to detect cardiac involvement in Fabry disease [PDF]
BMC Cardiovascular DisordersBackground Cardiac involvement of the disease is a leading cause of death and disability in Fabry disease characterized by pathological accumulation of globotriaosylceramide (Gb3) and lyso-globotriaosylceramide (lyso-Gb3) in multiple organs.
Yu Wang +11 more
doaj +2 more sources
Lyso-Gb3 activates Notch1 in human podocytes [PDF]
Human Molecular Genetics, 2015 Podocyte injury is an early feature of Fabry nephropathy, but the molecular mechanisms of podocyte injury are poorly understood. Lyso-Gb3 accumulates in serum in Fabry disease and increases extracellular matrix synthesis in podocytes. We explored the contribution of Notch1 signaling, a mediator of podocyte injury, to lyso-Gb3-elicited responses in ...
Maria D, Sanchez-Niño +5 more
openaire +2 more sources
Unraveling the Drivers and Consequences of Gut Microbiota Disruption in Fabry Disease: The lyso-Gb3 Link [PDF]
Future Microbiology, 2020 Peer ...
Sánchez-Niño, María Dolores +5 more
openaire +3 more sources
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. [PDF]
PLoS ONE, 2018 Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations.
L Lavalle +8 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its substrates, including ...
Mulan Deng +8 more
doaj +1 more source