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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Front Pediatr
मुख्य लेखकों: Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Frontiers Media S.A. 2020
विषय:
ऑनलाइन पहुंच: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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