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pro vyhledávání: '"Belle Guzman"'
Autor:
Jaclyn Cadaoas, Huimin Hu, Gabrielle Boyle, Elida Gomero, Rosario Mosca, Kartika Jayashankar, Mike Machado, Sean Cullen, Belle Guzman, Diantha van de Vlekkert, Ida Annunziata, Michel Vellard, Emil Kakkis, Vish Koppaka, Alessandra d’Azzo
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 191-203 (2021)
Galactosialidosis is a rare lysosomal storage disease caused by a congenital defect of protective protein/cathepsin A (PPCA) and secondary deficiency of neuraminidase-1 and β-galactosidase. PPCA is a lysosomal serine carboxypeptidase that functions
Externí odkaz:
https://doaj.org/article/d34dc77de868405aae409bdba6cc80c5
Autor:
Mike Machado, Rosario Mosca, Belle Guzman, Elida Gomero, Michel C. Vellard, Vish Koppaka, Ida Annunziata, Alessandra d'Azzo, Jaclyn Cadaoas, Gabrielle Boyle, Kartika Jayashankar, Huimin Hu, Sean Cullen, Emil D. Kakkis, Diantha van de Vlekkert
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss, Pp 191-203 (2021)
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss, Pp 191-203 (2021)
Galactosialidosis is a rare lysosomal storage disease caused by a congenital defect of protective protein/cathepsin A (PPCA) and secondary deficiency of neuraminidase-1 and β-galactosidase. PPCA is a lysosomal serine carboxypeptidase that functions