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Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
Grønborg, Sabine; Darin, Niklas; Miranda, Maria J; Damgaard, Bodil; Cayuela, Jorge Asin; Oldfors, Anders; Kollberg, Gittan; Hansen, Thomas V O; Ravn, Kirstine; Wibrand, Flemming; Østergaard, Elsebet.
Afiliação
  • Grønborg S; Center for Rare Diseases, Department of Clinical Genetics, Juliane Marie Center, University Hospital Copenhagen, Copenhagen, Denmark.
  • Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden.
  • Miranda MJ; Department of Pediatrics, Pediatric Neurology, Herlev University Hospital, Copenhagen University, Herlev, Denmark.
  • Damgaard B; Department of Diagnostic Imaging, Nordsjællands Hospital, Hillerød, Denmark.
  • Cayuela JA; Department of Clinical Chemistry, Sahlgrenska Academy, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Oldfors A; Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • Kollberg G; Department of Clinical Chemistry, Sahlgrenska Academy, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Hansen TVO; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Ravn K; Department of Clinical Genetics 4062, Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.
  • Wibrand F; Department of Clinical Genetics 4062, Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.
  • Østergaard E; Department of Clinical Genetics 4062, Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark. elsebet.oestergaard.01@regionh.dk.
JIMD Rep ; 33: 69-77, 2017.
Article em En | MEDLINE | ID: mdl-27604842

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Dinamarca

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Dinamarca
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