Corneal opacities in gaucher disease

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

Aya Abrahamov, Deborah Elstein, Ari Zimran et al. · The Lancet · 1995 · 212 citations

Medicine, Genetics, Molecular Genetics +17

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Amparo Chabás, Bru Cormand, Daniel Grinberg et al. · Journal of Medical Genetics · 1995 · 124 citations · Full text

Life Sciences, Genetics, Neurology +16

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

Eiichiro Uyama, Keiji Takahashi, M Owada et al. · Acta Neurologica Scandinavica · 1992 · 63 citations

Medicine, Neurology, Pathology +13