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Results 1 - 5 of 5 for Sanfilippo syndrome
  1. Mucopolysaccharidosis type III 
    Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain ... symptoms of the condition. MPS III Mucopolysaccharidosis III Sanfilippo syndrome Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A Genetic ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics
  2. NAGLU gene 
    ... EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. ... Ryazantsev S, Zhao HZ, Karsten SL, Neufeld EF. Sanfilippo syndrome type B, a lysosomal storage disease, is also ...
    https://medlineplus.gov/genetics/gene/naglu - Genetics
  3. HGSNAT gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hgsnat - Genetics
  4. GNS gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/gns - Genetics
  5. SGSH gene 
    ... GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 ...
    https://medlineplus.gov/genetics/gene/sgsh - Genetics