DOI:
10.1055/s-00029022
Journal of Pediatric Biochemistry
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References
Uyama E, Takahashi K, Owada M , et al.
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.
Acta Neurol Scand 1992;
86 (4) 407-420
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