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  • Title: Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites.
    Author: Saxonhouse MA, Behnke M, Williams JL, Richards D, Weiss MD.
    Journal: J Perinatol; 2003 Jan; 23(1):73-5. PubMed ID: 12556933.
    Abstract:
    Mucopolysaccharidosis Type VII (MPS VII) is a lysosomal storage disease caused by a deficiency of the enzyme, beta-glucuronidase. MPS VII has a wide variation in phenotypic expression, including presentation in the neonatal period with nonimmune hydrops fetalis. We report a neonate with MPS VII who initially presented with marked isolated ascites not associated with hydrops fetalis. This appears to be a novel finding in patients with MPS VII.
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