Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease

Enzyme Replacement Therapy in Fabry Disease

Raphael Schiffmann, Jeffrey B. Kopp, Howard A. Austin et al. · JAMA · 2001 · 1.3K citations

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Atul Mehta, Renato Pietro Ricci, Urs Widmer et al. · European Journal of Clinical Investigation · 2004 · 835 citations · Full text

The frequency of lysosomal storage diseases in The Netherlands

Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 724 citations

Lysosomal Storage Diseases, Mendelian Disorder, Genetic Disorder +8

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

K D MacDermot · Journal of Medical Genetics · 2001 · 678 citations · Full text

Automatic analysis of diabetic peripheral neuropathy using multi-scale quantitative morphology of nerve fibres in corneal confocal microscopy imaging

Mohammad A. Dabbah, J Graham, Ioannis N. Petropoulos et al. · Medical Image Analysis · 2011 · 291 citations · Full text

Peripheral Nerves, Engineering, Ophthalmology +15