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Gaucher disease associated with congenital ichthyosis in the neonate

✍ Scribed by Zeynep Ince; Asuman Coban; Önder Peker; Ümit Ince; Gülay Can

Publisher
Springer
Year
1995
Tongue
English
Weight
242 KB
Volume
154
Category
Article
ISSN
0340-6997

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W e describe 2 sibs who presented with ichthyotic skin at birth and subsequently developed neurologic manifestations of type 2 Gaucher disease. Type 2 Gaucher patients with and without ichthyosis manifest ultrastructural and biochemical abnormalities in the epidermis. The 2 patients described here c