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52 results
  1. ... 3. See Genotype-Phenotype Correlations . 4. See Prevalence . References Literature Cited Andrade F, Aldámiz-Echevarría L, Llarena M, Couce ML. Sanfilippo syndrome: Overall review. Pediatr Int. 2015; 57 :331–8. [ ...
  2. ... gov: Mucopolysaccharidoses (National Institutes of Health) ... (Nemours Foundation) Also in Spanish ...
  3. ... corneal clouding not a typical feature MPS III (Sanfilippo syndrome) (OMIM 252900 , 252920 , 252930 , 252940 ) GNS HGSNAT NAGLU ... AR Neurodegeneration, DD, hepatosplenomegaly (<50% of persons w/Sanfilippo syndrome) May have slower, more insidious course presenting mainly ...
  4. ... other_name >Mucopolysaccharidosis III</other_name><other_name >Sanfilippo syndrome</other_name></other_names></topic><topic ><url >https:// ...
  5. ... early adulthood GNS HGSNAT NAGLU SGSH MPS III (Sanfilippo syndrome) AR Neurodevelopmental delay & challenging behaviors w/progressive mobility ... posted live 14 August 2023 (kg) Original submission References Literature Cited Anna T, Nina B, Antti H, ...
  6. ... A, et al. Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Mol Genet Metab. 2015 Apr; ... Zhang X, Ren J, et al. Validation of reference genes for quantitative real-time PCR in valproic ...
  7. ... A, et al. Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Mol Genet Metab. 2015 Apr; ... Zhang X, Ren J, et al. Validation of reference genes for quantitative real-time PCR in valproic ...
  8. ... Mucopolysaccharidosis II C16.320.565.202.715.650 Mucopolysaccharidosis III C16.320.565.202.715.655 Mucopolysaccharidosis IV ... Mucopolysaccharidosis II C16.320.565.595.600.650 Mucopolysaccharidosis III C16.320.565.595.600.655 Mucopolysaccharidosis IV ...
  9. ... Mucopolysaccharidosis II C16.320.565.202.715.650...........................................Mucopolysaccharidosis III C16.320.565.202.715.655...........................................Mucopolysaccharidosis IV ...
  10. ... beta-Mannosidosis Mucolipidoses Mucopolysaccharidoses Mucopolysaccharidosis I Mucopolysaccharidosis II Mucopolysaccharidosis III Mucopolysaccharidosis IV Mucopolysaccharidosis VI Mucopolysaccharidosis VII Multiple Carboxylase ...
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