Safety of a protocol for reduction of agalsidase beta infusion time in Fabry disease: An Italian multi-centre study. [PDF]
Mol Genet Metab Rep, 2022 Mignani R, Pieruzzi F.
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Orphanet Journal of Rare DiseasesBackground Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the humanistic (quality of life [QoL])
Ana Jovanovic +5 more
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Reduction of agalsidase beta infusion time in patients with fabry disease: A case series report and suggested protocol. [PDF]
Mol Genet Metab Rep, 2021 Sánchez-Purificación A +6 more
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Enzyme replacement therapy in Fabry Disease: the importance of dose
Revista de Nefrología, Diálisis y Trasplante, 2017 Fabry disease is a rare X-linked inherited disorder due to deficient or absent lysosomal α-galactosidase A activity, resulting in an excessive glycosphingolipid deposit, mainly globotriaosylceramide (gl3) and mortality due renal, cardiac and neurological
Juan Manuel Politei +3 more
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Orphanet Journal of Rare DiseasesBackground Fabry disease (FD) is a rare, progressive disorder caused by pathogenic variants of the GLA gene resulting in the accumulation of toxic metabolites. Pain is a hallmark of FD, and patients often present with heterogeneous pain profiles.
Eric Wallace +7 more
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Analisi molecolare con Risonanza Magnetica Nucleare del tessuto miocardico in pazienti affetti da malattia di Anderson-Fabry: valore aggiunto della Risonanza Magnetica Cardiaca nell'identificazione e nel follow-up dei pazienti affetti da malattia di Anderson-Fabry in trattamento con enzima ricombinante agalsidase beta a dopo "switch therapy" con agalsidase alfa [PDF]
, 2013 Scopo La malattia di Anderson-Fabry è determinata da un disordine multi-sistemico del metabolismo lipidico dovuta alla carenza dell’enzima idrolitico α-galactosidase A (α-Gal A), secondario ad una alterazione del cromosoma X, che provoca un accumulo di ...
Messalli, Giancarlo
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Enzyme replacement therapy for Fabry disease: some answers but more questions
Therapeutics and Clinical Risk Management, 2011 Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of ...
Majid Alfadhel, Sandra Sirrs
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, 1905 Phi Beta Kappa was founded by five students at the College of William and Mary in 1776. This minute book documents the organization in the period 1905-1928.
Phi Beta Kappa +1 more
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Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis. [PDF]
Clin Kidney J, 2021 Ortiz A +11 more
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Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data [PDF]
Sandro Feriozzi,1 Cristina Chimenti,2 Ricardo Claudio Reisin3 1Department of Nephrology and Dialysis Unit, Belcolle Hospital Viterbo, Italy; 2Department of Clinical Sciences, Internal Medicine, Anesthesiology and Cardiovascular Sciences, La Sapienza ...
Feriozzi S, Reisin RC, Chimenti C
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