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Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Jensen, Kristian Vestergaard; Frid, Maria; Stödberg, Tommy; Barbaro, Michela; Wedell, Anna; Christensen, Mette; Bak, Mads; Ek, Jakob; Madsen, Camilla Gøbel; Darin, Niklas; Grønborg, Sabine.
Afiliação
  • Jensen KV; Department of Neonatology Copenhagen University Hospital Copenhagen Denmark.
  • Frid M; Department of Paediatrics Ryhov County Hospital Jönköping Sweden.
  • Stödberg T; Department of Women's and Children's Health Karolinska Institutet Stockholm Sweden.
  • Barbaro M; Neuropaediatric Unit Karolinska University Hospital Stockholm Sweden.
  • Wedell A; Centre for Inherited Metabolic Diseases Karolinska University Hospital Stockholm Sweden.
  • Christensen M; Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden.
  • Bak M; Centre for Inherited Metabolic Diseases Karolinska University Hospital Stockholm Sweden.
  • Ek J; Department of Molecular Medicine and Surgery Science for Life Laboratory, Karolinska Institutet Stockholm Sweden.
  • Madsen CG; Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark.
  • Darin N; Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark.
  • Grønborg S; Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark.
JIMD Rep ; 50(1): 1-8, 2019 Nov.
Article em En | MEDLINE | ID: mdl-31741821
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2019 Tipo de documento: Article