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Sly Disease: Mucopolysaccharidosis Type VII.

Sheela Nampoothiri, Mahesh Kappanayil, K R Hiran, V Sunitha
Indian Pediatrics 2008 October
A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.

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