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Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.
Uyama E, Takahashi K, Owada M, Okamura R, Naito M, Tsuji S, Kawasaki S, Araki S. Uyama E, et al. Acta Neurol Scand. 1992 Oct;86(4):407-20. doi: 10.1111/j.1600-0404.1992.tb05109.x. Acta Neurol Scand. 1992. PMID: 1333717
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