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Infantile Sandhof disease with ventricular septal defect: A case report
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Infantile Sandhof disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes β-hexosaminidase A and B. |