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Sanfilippo's syndrome |
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Sanfilippo's syndrome [san·fə′lip·ōz ‚sin‚drōm] (medicine) A hereditary metabolic disorder, transmitted as an autosomal recessive, characterized by excessive amounts of heparitin sulfate in the urine, and manifested by minor skeletal changes and slight hepatomegaly. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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| John and Alicia Bennett are the parents of three children suffering from Sanfilippo syndrome, a rare and invariably fatal genetic disorder in which a person is born without a crucial enzyme needed to break down chains of sugar molecules. |
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