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Lysosomal Storage Disease

Get the facts on Lysosomal Storage Disease treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Lysosomal Storage Disease prevention, screening, research, statistics and other Lysosomal Storage Disease related topics. We answer all your qestions about Lysosomal Storage Disease.

Question: imagine that you are a pediatrician and one of your patient is a newborn who may have a lysosomal storage dise? disease. You remove some cells from the patient and examine them under the microscope. What would expect to see? Design a series of tests that reveal whether the patient is indeed suffering from a lysosomal storage disease.

Answer: Well you'd expect to see swollen cells with eccentric nuclei filled with the substance that is over-stored in the particular type of lysosomal storage disease present. However, you would have to have the right type of cells where the storage is occurring (again, the "right" type will depend on the specific disease). Finally, a pediatrician would rarely be the one obtaining the cells and would almost never be the one looking at the cells under the microscope. The one obtaining the cells would often be a consultant taking a biopsy and the one looking under the scope would be a pathologist. That being said, a link to a picture is attached and you can get a lot more pictures if you Google: lysosomal storage disease histology

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