Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

by Hanns Lochmüller, Antonio Nino Ramirez, Emil Kakkis
Published 2021-03-01

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.

by Yiumo Michael Chan, Paul Lee, Steve Jungles, Gabrielle Morris, Jaclyn Cadaoas, Alison Skrinar, Michel Vellard, Emil Kakkis
Published 2017-01-01

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice.

by Melita Dvorak-Ewell, Dan Wendt, Chuck Hague, Terri Christianson, Vish Koppaka, Danielle Crippen, Emil Kakkis, Michel Vellard
Published 2010-01-01

Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept

by 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
Published 2021-03-01

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

by Rosario Mosca, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Jaclyn Cadaoas, Vish Koppaka, Emil Kakkis, Cynthia Tifft, Camilo Toro, Simona Allievi, Cinzia Gellera, Laura Canafoglia, Gepke Visser, Ida Annunziata, Alessandra d’Azzo
Published 2020-03-01