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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. Bone Marrow or Blood Stem Cell Transplants in Children With Certain Rare Inherited Metabolic Diseases - Comparative ... 
    https://www.ncbi.nlm.nih.gov/books/NBK169011
    ... nasal passages and windpipe Delayed development and growth Sanfilippo Syndrome Sanfilippo syndrome appears after the first year of ... is needed to know for sure 8 patients Sanfilippo syndrome Did not appear to improve mental ** or physical † ...
  7. Carbohydrate Metabolism Disorders 
    https://medlineplus.gov/carbohydratemetabolismdisorders.html
    ... gov: Mucopolysaccharidoses (National Institutes of Health) ... (Nemours Foundation) Also in Spanish Topic ...
  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. Hematopoietic Stem-Cell Transplantation for Rare Diseases in the Pediatric Population - Comparative Effectiveness ... 
    https://www.ncbi.nlm.nih.gov/books/NBK169014
    ... Neurocognitive and neurodevelopmental outcomes not improved MPS III (Sanfilippo syndrome; N = 9) Infantile neuronal ceroid lipofuscinosis (NCL; N = ... disease, Gaucher disease, infantile NCL, Hunter syndrome, and Sanfilippo syndrome What an allogeneic HSCT is and how it ...
  10. 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:// ...
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