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- W2050873857 abstract "Mucopolysaccharidosis-IIIB or Sanfilippo-B syndrome is caused by deficiency of lysosomal α- N-acetylglucosaminidase that leads to accumulation of heparan-sulphate and degeneration of central nervous system with progressive dementia, hyperactivity, and aggressive behavior. Mucopolysaccharidosis-III remains underdiagnosed as a cause of developmental delay and hyperactivity both in adults and children because in contrast to other mucopolysaccharidoses, they have little somatic disease, coarse facial features, hepatosplenomegaly or skeletal changes, and a high incidence of false-negative results on the urinary screening tests. We describe here a girl with the classic phenotype of mucopolysaccharidosis-IIIB to alert pediatricians to the possibility of this disorder in children with unexplained speech delay and hyperactivity and prevent unnecessary investigations." @default.
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- W2050873857 date "2013-06-12" @default.
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- W2050873857 title "Hyperactivity, Unexplained Speech Delay, and Coarse Facies—Is It Sanfilippo Syndrome?" @default.
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- W2050873857 doi "https://doi.org/10.1177/0883073813491627" @default.
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