De novo mutation in a male patient with Fabry disease: a case report

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

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Mendelian Disorder, Pediatrics, Prenatal Diagnosis +4

α-Galactosidase A deficiency. Fabry disease

R J Desnick · Medical Entomology and Zoology · 2001 · 581 citations

Fabry Disease, Autoimmune Disease, Disease Mechanism +8

The Molecular Defect Leading to Fabry Disease: Structure of Human α-Galactosidase

Scott C. Garman, David N. Garboczi · Journal of Molecular Biology · 2004 · 397 citations

Molecular Defect Leading, Fabry Disease, Mendelian Disorder +8

Opening the archives for state of the art tumour genetic research: sample processing for array-CGH using decalcified, formalin-fixed, paraffin-embedded tissue-derived DNA samples

Daniëlle de Jong, Sofie Verbeke, Daniëlle Meijer et al. · BMC Research Notes · 2011 · 263 citations · Full text

Pediatric Fabry Disease

Markus Ries, Surya Gupta, David F. Moore et al. · PEDIATRICS · 2005 · 212 citations