Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis
In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD). GD is a glycolipid storage disease leading to widely variable phenotypes such as hydrops fetalis, congenital ichthyosis, hepatosplenomegaly, thrombo...
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| Main Authors: | , , , |
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| Format: | Book |
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Hygeia Press di Corridori Marinella,
2019-07-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |