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  • Title: [Mucopolysaccharidosis IS: Scheie's syndrome. A report of 2 brothers].
    Author: Bonora G, Frattini D, Nedbal M, Massironi C, Perletti L.
    Journal: Pediatr Med Chir; 1991; 13(6):631-6. PubMed ID: 1839643.
    Abstract:
    We describe two brothers affected by MPS type IS (Scheie syndrome). Mucopolysaccharidosis type I consists of three clinical entities of varying severity, all due to alfalevo-iduronidase enzyme deficiency. The MPS IS in characterized by joint stiffness, aortic valve disease and corneal clouding. The intellect is normal. All these findings are present on our brothers; furthermore retinal degeneration also occurred. It could give in the future attendant deterioration of vision.
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