Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.10.006
Abstract: BACKGROUND Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of heparan sulfate in the central nervous system and is associated with progressive neurodegeneration… read more here.
Keywords: trial; syndrome type; heparan sulfatase; sanfilippo syndrome ... See more keywords
Meaningful treatment outcomes for Sanfilippo syndrome: A study of caregiver preferences and prioritization
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2018.12.285
Abstract: Sanfilippo syndrome (MPS III) is a rare, degenerative disorder with no approved therapies. This study explored caregiver perceptions of the burden of Sanfilippo syndrome on the child and family, and meaningful benefits that are desired… read more here.
Keywords: score; progression; treatment; communication ... See more keywords
Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach
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DOI: 10.2147/jmdh.s362994
Abstract: Abstract Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a disease grouping five genetic disorders, four of them occurring in humans and one known to date only in a mouse model. In every subtype… read more here.
Keywords: multidisciplinary approach; optimizing care; care multidisciplinary; mps iii ... See more keywords
Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil
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DOI: 10.3389/fneur.2022.968297
Abstract: Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is the most common form of MPS, in which neurological involvement in all stages of the disease is prominent. The current study aimed to comprehensively describe the… read more here.
Keywords: iii sanfilippo; neurological neurobehavioral; age; neurobehavioral radiological ... See more keywords