Clinical features of 6 children with uridine-responsive developmental epileptic encephalopathy 50 caused by CAD gene variants
Objective: To analyze the clinical features of children with uridine responsive developmental epileptic encephalopathy 50 (DEE50) caused by CAD gene variants. Methods: A retrospective study was conducted on 6 patients diagnosed with uridine-responsive DEE50 caused by CAD gene variants at Beijing Chi...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 61(2023), 5 vom: 02. Mai, Seite 453-458
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| 1. Verfasser: |
Zhou, L
(VerfasserIn) |
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| Weitere Verfasser: |
Fang, F,
Deng, J,
Liu, S J,
Chen, C H,
Li, H,
Ren, C H,
Wu, Y |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2023
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | English Abstract
Journal Article
Uridine
WHI7HQ7H85
CAD trifunctional enzyme |
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