A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide hyaluronic acid. UGDH is critical to the produc...

Descripción completa

Detalles Bibliográficos
Autores principales: Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056728/
https://www.ncbi.nlm.nih.gov/pubmed/32175296
http://dx.doi.org/10.3389/fped.2020.00071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056728/
https://www.ncbi.nlm.nih.gov/pubmed/32175296
http://dx.doi.org/10.3389/fped.2020.00071

Ejemplares similares