Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.
- Resource Type
- Article
- Source
- BMC Pediatrics; 3/7/2024, Vol. 23 Issue 2, p1-12, 12p
- Subject
LITERATURE reviews GENETIC mutation GENETIC variation NONSENSE mutation EPILEPSY PEOPLE with epilepsy - Language
- ISSN
- 14712431