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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.
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
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  Data: Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.
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  Data: <searchLink fieldCode="AU" term="%22Al-Otaibi+A%22">Al-Otaibi A</searchLink>; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22AlAyed+A%22">AlAyed A</searchLink>; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al+Madhi+A%22">Al Madhi A</searchLink>; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Saeed+L%22">Saeed L</searchLink>; Section of Clinical Pharmacy, Neurology Department, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Ng+BG%22">Ng BG</searchLink>; Human Genetics Program, Sanford Burnham Prebys, La Jolla, CA 92037, USA.<br /><searchLink fieldCode="AU" term="%22Freeze+HH%22">Freeze HH</searchLink>; Human Genetics Program, Sanford Burnham Prebys, La Jolla, CA 92037, USA.<br /><searchLink fieldCode="AU" term="%22Almannai+M%22">Almannai M</searchLink>; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
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  Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2021 Dec 16; Vol. 30, pp. 100835. <i>Date of Electronic Publication: </i>2021 Dec 16 (<i>Print Publication: </i>2022).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101624422 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2214-4269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222144269%22">22144269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab Rep <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1016/j.ymgmr.2021.100835
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              Text: 2021 Dec 16
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