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  1. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... 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. NAGLU gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/naglu
    ... NAGLU Gene and Variant Databases NCBI Gene ClinVar References Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. ...
  3. Mucopolysaccharidosis type III: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii
    ... TYPE IIID; MPS3D Scientific Articles on PubMed PubMed References Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. ...
  4. GNS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gns
    ... GNS Gene and Variant Databases NCBI Gene ClinVar References Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E. Sanfilippo syndrome type D: natural history and identification of 3 ...
  5. SGSH gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sgsh
    ... SGSH Gene and Variant Databases NCBI Gene ... in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat. 2008 May;29(5):770. doi: ...
  6. Carbohydrate Metabolism Disorders 
    https://medlineplus.gov/carbohydratemetabolismdisorders.html
    ... gov: Mucopolysaccharidoses (National Institutes of Health) ... (Nemours Foundation) Also in Spanish Topic ...
  7. Multiple Sulfatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538937
    ... 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 ...
  8. HGSNAT gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hgsnat
    ... van Diggelen OP, Hrebicek M, Kmoch S, Pshezhetsky AV. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate ... GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 ...
  9. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... other_name >Mucopolysaccharidosis III</other_name><other_name >Sanfilippo syndrome</other_name></other_names></topic><topic ><url >https:// ...
  10. Aspartylglucosaminuria - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK599378
    ... 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, ...
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