Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Estera Rintz"'
Autor:
Estera Rintz, Betul Celik, Nidhi Fnu, Angélica María Herreño-Pachón, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102211- (2024)
Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme responsible for the degradation of specific glycosaminoglycans (GAGs). The progressive accumulation of GAGs leads to various
Externí odkaz:
https://doaj.org/article/2f3e9aa130624ddab430b233b94c89ae
Autor:
Estera Rintz, Takashi Higuchi, Hiroshi Kobayashi, Deni S. Galileo, Grzegorz Wegrzyn, Shunji Tomatsu
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 24, Iss , Pp 71-87 (2022)
More than 50 lysosomal storage diseases (LSDs) are associated with lysosomal dysfunctions with the frequency of 1:5,000 live births. As a result of missing enzyme activity, the lysosome dysfunction accumulates undegraded or partially degraded molecul
Externí odkaz:
https://doaj.org/article/c83e54ba5bdb496cb03c6ad380a4ec53
Autor:
Grzegorz Węgrzyn, Takashi Higuchi, Estera Rintz, Hiroshi Kobayashi, Shunji Tomatsu, Deni S. Galileo
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 24, Iss, Pp 71-87 (2022)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
More than 50 lysosomal storage diseases (LSDs) are associated with lysosomal dysfunctions with the frequency of 1:5,000 live births. As a result of missing enzyme activity, the lysosome dysfunction accumulates undegraded or partially degraded molecul