Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Natasha Rudy"'
Autor:
Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, Lynda Holloway, Cindy Skinner, Anna Hurst, Michael Tiemeyer, Richard Steet
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 138-145 (2023)
Abstract GM3 synthase deficiency (GM3SD) is caused by biallelic variants in ST3GAL5. The ganglioside GM3, enriched in neuronal tissues, is a component of lipid rafts and regulates numerous signaling pathways. Affected individuals with GM3SD exhibit g
Externí odkaz:
https://doaj.org/article/204c7fa285a649e18e49b3a15749debc
Autor:
null Maria Descartes, null Yulia V. Melenevsky, null Natasha Rudy, null Kirstin Smith, null Kaitlin Callaway, null Jack S. Parker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0209b43cde21f062c69850679d6d1ae
https://doi.org/10.1111/cge.13940/v3/response1
https://doi.org/10.1111/cge.13940/v3/response1
