about
Long-term safety and efficacy of enzyme replacement therapy for Fabry diseasePatients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.Gaucher's disease: a paradigm for interventional genetics.[Gaucher disease: clinical, genetic and therapeutic aspects]Liquid chromatography on porous graphitic carbon with atmospheric pressure photoionization mass spectrometry and tandem mass spectrometry for the analysis of glycosphingolipids.End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatPseudoxanthoma elasticumPrognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry RegistryFabry disease: Four case reports of meningioma and a review of the literature on other malignanciesOral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.Familial occurrence and heritable connective tissue disorders in cervical artery dissectionMigalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.Clinical and genetic features of vascular Ehlers-Danlos syndrome.Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients.Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.Vascular Ehlers-Danlos syndrome.Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.Determinants of white matter hyperintensity burden in patients with Fabry disease.Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.Neurologic manifestations of inherited disorders of connective tissue.[Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations].LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease[Enzyme replacement therapy of lysosomal storage diseases].[Fabry disease: enzymatic screening using dried blood spots on filter paper].Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.[Pharmacological chaperons: a novel therapeutic approach for genetic diseases].A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.Endothelial markers and homocysteine in patients with classic Fabry disease.Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease.Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
P50
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P50
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researcher
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wetenschapper
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հետազոտող
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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Dominique P Germain
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P106
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0000-0002-8355-007X
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viaf-194088464