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Fabry disease

Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?

Lorenz Grigull, Sandra Mehmecke, [ ... ], Frank Klawonn

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease

Andrea N. Crivaro, Juan M. Mucci, [ ... ], Paula A. Rozenfeld

Voluntary wheel running activates Akt/AMPK/eNOS signaling cascades without improving profound endothelial dysfunction in mice deficient in α-galactosidase A

Justin J. Kang, Taylour A. Treadwell, Peter F. Bodary, James A. Shayman

Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases

Margarita M. Ivanova, Erk Changsila, Chidima Iaonou, Ozlem Goker-Alpan

Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

Verdiana Ravarotto, Gianni Carraro, [ ... ], Lorenzo A. Calò

A prospective, observational study of patients with uncommon distal symmetric painful small-fiber neuropathy

Jung-Lung Hsu, Ming-Feng Liao, [ ... ], Long-Sun Ro

Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study

Daniel P. Franzen, Albina Nowak, [ ... ], Frederic Barbey

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

Rocco Liguori, Alex Incensi, [ ... ], Vincenzo Donadio

Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease

Wen-Hsin Chang, Dau-Ming Niu, [ ... ], Jan-Gowth Chang

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

Regina El Dib, Huda Gomaa, [ ... ], Fellype Barreto

Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

Brent Fall, C. Ronald Scott, [ ... ], Behzad Najafian

Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease

Nurcan Üçeyler, Nils Schröter, [ ... ], Claudia Sommer

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

Valentina Citro, Jorge Peña-García, [ ... ], Giuseppina Andreotti

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