MPS-IIIA mice acquire autistic behaviours with age
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0160-9
Abstract: Mucopolysaccharidosis (MPS) type IIIA is an inherited, neurodegenerative lysosomal storage disorder resulting from mutations in the SGSH gene. Consequently, N-sulphoglucosamine sulphohydrolase enzyme activity is reduced resulting in impaired catabolism of heparan sulphate. After an asymptomatic… read more here.
Keywords: age; iiia mice; mps iiia; mice acquire ... See more keywords
Regression Trends & Treatment Effectiveness to Improve Quality of Life for a Pre-Adolescent Girl with MPS IIIA
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Developmental and Physical Disabilities"
DOI: 10.1007/s10882-018-9601-5
Abstract: Children with Mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo Syndrome) have a rare lysosomal storage disorder. As these children age, they exhibit increasing numbers of symptoms representative of autism spectrum disorder, cognitive and communication regression, and behavior… read more here.
Keywords: girl mps; regression; communication; mps iiia ... See more keywords
Design and rationale of the LYS-SAF302 gene therapy study in mucopolysaccharidosis type IIIA (MPS IIIA) children
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2018.12.283
Abstract: Mucopolysaccharidosis type IIIA (MPS IIIA) (OMIM 252900) leads to early-onset neurodegeneration and premature death. Though the involvement of multiple organ systems in MPS IIIA is recognized, central nervous system (CNS) manifestations predominate, in particular intellectual… read more here.
Keywords: lys; mps iiia; study; gene therapy ... See more keywords
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100510
Abstract: Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) characterized by severe central nervous system (CNS) degeneration. The disease is caused by mutations in the SGSH gene coding for the lysosomal enzyme sulfamidase.… read more here.
Keywords: sulfamidase; heparan sulfate; pathology; mps iiia ... See more keywords
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100578
Abstract: Background Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a chronic progressive neurodegenerative storage disorder caused by a deficiency of lysosomal sulfamidase. The clinical hallmarks are sleep disturbances, behavioral abnormalities and loss of cognitive,… read more here.
Keywords: mps iiia; mucopolysaccharidosis type; type iiia;
Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-022-02208-w
Abstract: Background MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approved therapies for… read more here.
Keywords: mps iiia; age; severity stages; qualitatively derived ... See more keywords