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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...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7056728/
https://ncbi.nlm.nih.gov/pubmed/32175296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00071
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