What are the symptoms of a lysosomal storage disease? View Question: www.jefferson.edu
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There is great variability in the clinical features of these different diseases. Symptoms can begin before birth (e.g. non-immune fetal hydrops) or can become obvious in the 90th decade (e.g. Gaucher disease). Many young patients present with developmental delay or regression of learned skills, spasticity, ataxia, abnormal tone or seizures, while others present with evidence of liver and/or spleen...
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