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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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| These included such viral and bacterial infections as congenital forms of herpes, rubella and cytomegalovirus; chromsome and genetic abnormalities such as fragile X syndrome, Down's syndrome and tuberous sclerosis; and metabolic disorders such as congenital hypothyroidism and an enyzme deficiency known as Sanfilippo's syndrome. |
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