Browsing Academic by Subject "Sanfilippo syndrome"

Now showing items 1-2 of 2

    • Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA 

      Tanwar, Himani; Kumar, D Thirumal; Doss, C George Priya; Zayed, Hatem ( Springer US , 2019 , Article)
      Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in an autosomal recessive manner and is ...

    • Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III. 

      Mobini, Moein; Radbakhsh, Shabnam; Kubaski, Francyne; Eshraghi, Peyman; Vakili, Saba; ... more authors ( Europe PMC , 2023 , Article)
      Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal storage disease (LSD) caused by a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans (GAGs), mainly in the ...