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Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients
BackgroundEnzyme replacement therapy is currently the only approved therapy for Fabry disease. From June 2009 on, viral contamination of Genzyme's production facility resulted in a worldwide shortageExpand
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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not expressExpand
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Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
BACKGROUND Screening in subjects with left ventricular hypertrophy (LVH) reveals a high prevalence of Fabry disease (FD). Often, a diagnosis is uncertain because characteristic clinical features areExpand
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Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease
The endothelial dysfunction of Fabry disease results from α-galactosidase A deficiency leading to the accumulation of globotriaosylceramide. Vasculopathy in the α-galactosidase A null mouse isExpand
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Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
BackgroundWe retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat andExpand
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Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
BackgroundFabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment withExpand
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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Background Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, has a heterogeneous phenotype. GLA variants can lead to classical FD, an attenuatedExpand
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A revised home treatment algorithm for Fabry disease: influence of antibody formation.
BACKGROUND Enzyme replacement therapy for Fabry disease, consisting of biweekly infusions, interferes daily life. Home treatment proved beneficial. We evaluated a previously reported home treatmentExpand
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Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance
Fabry disease' (FD) phenotype is heterogeneous: alpha‐galactosidase A gene mutations (GLA) can lead to classical or non‐classical FD, or no FD. The aim of this study is to describe pitfalls inExpand
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Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy
IntroductionData on prevalence, natural history, and effect of enzyme replacement therapy (ERT) on hearing loss (HL) in Fabry disease (FD) are scarce.MethodsThis is a retrospective study withExpand
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