Congenital ichthyosis preceding neurolog
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Fujimoto, Atsuko ;Tayebi, Nahid ;Sidransky, Ellen
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Article
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1995
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John Wiley and Sons
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English
β 359 KB
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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