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TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
Muylle, Ewout; Jiang, Huafang; Johnsen, Christin; Byeon, Seul Kee; Ranatunga, Wasantha; Garapati, Kishore; Zenka, Roman M; Preston, Graeme; Pandey, Akhilesh; Kozicz, Tamas; Fang, Fang; Morava, Eva.
Afiliação
  • Muylle E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Jiang H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
  • Johnsen C; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Byeon SK; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Ranatunga W; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Garapati K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Zenka RM; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India.
  • Preston G; Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Pandey A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Kozicz T; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Fang F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
J Inherit Metab Dis ; 45(6): 1039-1047, 2022 11.
Article em En | MEDLINE | ID: mdl-36047296
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estrabismo / Epilepsias Mioclônicas / Alquil e Aril Transferases / Transtornos do Desenvolvimento da Linguagem Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estrabismo / Epilepsias Mioclônicas / Alquil e Aril Transferases / Transtornos do Desenvolvimento da Linguagem Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article