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Infantile Sandhoff Disease

Known as: Sandhoff Disease, Infantile 
 
National Institutes of Health

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Sandhoff Disease

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2018
2018
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
BackgroundInfantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most… Expand
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2017
2017
Early cardiac involvement in an infantile Sandhoff disease case with novel mutations
INTRODUCTION Hepatosplenomegaly is often present in infantile Sanshoff disease. However, cardiac involvement is extremely… Expand
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