A Patient With CAD Deficiency Responsive to Uridine and Literature Review
CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis, and pyrimidine can be alternatively recycled from uridine. Trio whole-exome sequencing identified CAD compound heterozygous mutations in a new male patient with global developmental delay (DD), refractory epilepsy, and...
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| Glavni autori: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Frontiers Media S.A.
2020-02-01
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| Serija: | Frontiers in Neurology |
| Teme: | |
| Online pristup: | https://www.frontiersin.org/article/10.3389/fneur.2020.00064/full |
| Oznake: |
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