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

Cerebral Blood Flow in Patients With Fabry Disease as Measured by Doppler Sonography Is Not Different From That in Healthy Individuals and Is Unaffected by Treatment

(2017) Nurcan Üçeyler et al.   JOURNAL OF ULTRASOUND IN MEDICINE

Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review

(2015) Linda van der Tol et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Characterization of Human Dermal Fibroblasts in Fabry Disease

(2015) Jarmila Lakomá et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

(2015) Linda van der Tol et al.   MOLECULAR GENETICS AND METABOLISM

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

(2015) Frits A. Wijburg et al.   PLoS One

Increased Arterial Diameters in the Posterior Cerebral Circulation in Men with Fabry Disease

(2014) Nurcan Üçeyler et al.   PLoS One

Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease

(2012) C. Tondel et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A modified score to identify and discriminate neuropathic pain: a study on the German version of the neuropathic pain symptom inventory (NPSI)

(2011) Claudia Sommer et al.   BMC Neurology

Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy

(2011) Nurcan Üçeyler et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections

(2011) Carmen Valbuena et al.   VIRCHOWS ARCHIV

Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy

(2010) N. Uceyler et al.   NEUROLOGY

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

(2009) R. Schiffmann et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Fabry disease

(2009) Raphael Schiffmann   PHARMACOLOGY & THERAPEUTICS

The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology

(2008) G. Devigili et al.   BRAIN

Safety and Efficacy of Enzyme Replacement Therapy with Agalsidase Beta: An International, Open-label Study in Pediatric Patients with Fabry Disease

(2007) J. Edmond Wraith et al.   JOURNAL OF PEDIATRICS