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Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.
Tseng, L A; Teela, L; Janssen, M C; Bok, L A; Willemsen, M A A P; Neuteboom, R F; Haverman, L; Gospe, S M; Coughlin, C R; van Karnebeek, C D M.
Afiliación
  • Tseng LA; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
  • Teela L; On behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.
  • Janssen MC; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam Reproduction and Development, Amsterdam Public Health, Amsterdam, the Netherlands.
  • Bok LA; Department of Internal Medicine, Radboud Centre for Mitochondrial and Metabolic Medicine, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands.
  • Willemsen MAAP; Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands.
  • Neuteboom RF; On behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.
  • Haverman L; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Gospe SM; Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Coughlin CR; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam Reproduction and Development, Amsterdam Public Health, Amsterdam, the Netherlands.
  • van Karnebeek CDM; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.
Mol Genet Metab Rep ; 31: 100853, 2022 Jun.
Article en En | MEDLINE | ID: mdl-35782612
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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos