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Adult-onset neuronopathic form of Gaucher's disease: a case report

✍ Scribed by J. Guimarães; O. Amaral; M.C. Sá Miranda


Book ID
117751843
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
80 KB
Volume
9
Category
Article
ISSN
1353-8020

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Adult Gaucher's disease (type I) is characterized by a deficiency of the catabolic lysosomal enzyme glucocerebrosidase that results in the accumulation of abnormal cells that contain glucocerebrosides in skeletal and reticuloendothelial tissues. Splenomegaly, hepatomegaly, anemia, thrombocytopenia,