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84 results
  1. Mucopolysaccharidosis type III 
    https://medlineplus.gov/ency/article/001210.htm
    MPS III; Sanfilippo syndrome; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lysosomal storage disease - mucopolysaccharidosis type III ... Pearse Y, Iacovino M. A cure for Sanfilippo syndrome? A summary of current ... Med Res Arch . 2020;8(2):10. PMID: 32733997 pubmed.ncbi.nlm.nih.gov/ ...
  2. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... Prev Next > Mucopolysaccharidosis Type III Synonyms: MPS III, Sanfilippo Syndrome Victoria F Wagner , MS, CGC and Hope Northrup , ... F, Aldámiz-Echevarría L, Llarena M, Couce ML. Sanfilippo syndrome: Overall review. Pediatr Int. 2015; 57 :331–8. [ ...
  3. Mucopolysaccharidosis type III: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii
    ... Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain ... Names for This Condition MPS III Mucopolysaccharidosis III Sanfilippo syndrome Additional Information & Resources Genetic Testing Information Genetic Testing ...
  4. NAGLU gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/naglu
    ... EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. ... LC, Ryazantsev S, Zhao HZ, Karsten SL, Neufeld EF. Sanfilippo syndrome type B, a lysosomal storage disease, is also ...
  5. 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 ...
  6. 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 ...
  7. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain ... MPS III</synonym><synonym >Mucopolysaccharidosis III</synonym><synonym >Sanfilippo syndrome</synonym></synonym-list><db-key-list ><db-key >< ...
  8. GNS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gns
    ... Veilleux M, Andermann F, Hegele RA, Andermann E. Sanfilippo syndrome type D: natural history and identification of 3 ... GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 ...
  9. SGSH gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sgsh
    ... GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 ...
  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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