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Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
McGraw, Christopher M; Mahida, Sonal; Jayakar, Parul; Koh, Hyun Yong; Taylor, Alan; Resnick, Trevor; Rodan, Lance; Schwartz, Marc A; Ejaz, Ayesha; Sankaran, Vijay G; Berry, Gerard; Poduri, Annapurna.
Afiliação
  • McGraw CM; Epilepsy, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Mahida S; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
  • Jayakar P; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Koh HY; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Taylor A; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, Florida, USA.
  • Resnick T; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Rodan L; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Schwartz MA; Al Jalila Children's Hospital, Dubai, United Arab Emirates.
  • Ejaz A; Division of Pediatric Neurology, Miami Children's Hospital, Miami, Florida, USA.
  • Sankaran VG; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
  • Berry G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Poduri A; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Ann Clin Transl Neurol ; 8(3): 716-722, 2021 03.
Article em En | MEDLINE | ID: mdl-33497533
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato Carbamoiltransferase / Uridina / Carbamoil Fosfato Sintase (Glutamina-Hidrolizante) / Di-Hidro-Orotase / Epilepsia Resistente a Medicamentos Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato Carbamoiltransferase / Uridina / Carbamoil Fosfato Sintase (Glutamina-Hidrolizante) / Di-Hidro-Orotase / Epilepsia Resistente a Medicamentos Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article