Novel alpha-galactosidase A mutation in a female with recurrent strokes

Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

Mary F. Lyon · Nature · 1961 · 4K citations

Life Sciences, Genetics, Molecular Genetics +12

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 · 852 citations · Full text

Life Sciences, Biochemistry, Clinical Sciences +12

α-Galactosidase A deficiency. Fabry disease

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

Life Sciences, Biochemistry, Genetics +5

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study

Arndt Rolfs, Tobias Böttcher, Marlies Zschiesche et al. · The Lancet · 2005 · 467 citations

Medicine, Clinical Sciences, Neurology +5

Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events

Katherine B. Sims, Juan Politei, Maryam Banikazemi et al. · Stroke · 2009 · 340 citations

Medicine, Clinical Sciences, Neurology +11