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Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.
Al-Otaibi, Ali; AlAyed, Alaa; Al Madhi, Asma; Saeed, Leena; Ng, Bobby G; Freeze, Hudson H; Almannai, Mohammed.
Afiliación
  • 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.
Mol Genet Metab Rep ; 30: 100835, 2022 Mar.
Article en En | MEDLINE | ID: mdl-35242569
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Arabia Saudita