Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.
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| Title: | Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature. |
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| Authors: | Al-Otaibi A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., AlAyed A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Madhi A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Saeed L; Section of Clinical Pharmacy, Neurology Department, King Fahad Medical City, Riyadh, Saudi Arabia., Ng BG; Human Genetics Program, Sanford Burnham Prebys, La Jolla, CA 92037, USA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys, La Jolla, CA 92037, USA., Almannai M; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. |
| Source: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Dec 16; Vol. 30, pp. 100835. Date of Electronic Publication: 2021 Dec 16 (Print Publication: 2022). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 2214-4269 |
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| DOI: | 10.1016/j.ymgmr.2021.100835 |
