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Gaucher disease: pathological mechanisms and modern management

✍ Scribed by Marina Jmoudiak; Anthony H. Futerman


Book ID
108673018
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
148 KB
Volume
129
Category
Article
ISSN
0007-1048

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Severe type II Gaucher disease with icht
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Severe infantile Gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II Gaucher disease. This group of infants has little, if any, detectable ␀-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for th