Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with-glucocerebrosidase deficiency and a mosaic population of storage cells
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0404.1992.tb05109.x/fullpdf
Reference74 articles.
1. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease;Brady;Biochem Biophys Res Commun,1965
2. Neurologic complications of Gaucher's disease, type 3;Nishimura;Arch Neurol,1980
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