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A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
Kasapkara, Çigdem Seher; Tümer, Leyla; Gregory, Allison; Ezgü, Fatih; Inci, Asli; Derinkuyu, Betül Emine; Fox, Rachel; Rogers, Caleb; Hayflick, Susan.
Afiliação
  • Kasapkara ÇS; Department of Pediatric Metabolism and Nutrition, Dr. Sami Ulus Maternity and Children's Research and Education Hospital, Ankara, Turkey. cskasapkara@gmail.com.
  • Tümer L; Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.
  • Gregory A; Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, Oregon, 97239, USA.
  • Ezgü F; Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.
  • Inci A; Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.
  • Derinkuyu BE; Department of Pediatric Radiology, Dr. Sami Ulus Maternity and Children's Research and Education Hospital, Ankara, Turkey.
  • Fox R; Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, Oregon, 97239, USA.
  • Rogers C; Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, Oregon, 97239, USA.
  • Hayflick S; Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, Oregon, 97239, USA.
Acta Neurol Belg ; 119(4): 623-625, 2019 Dec.
Article em En | MEDLINE | ID: mdl-30298423
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro / Proteínas Mitocondriais Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Acta Neurol Belg Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Turquia País de publicação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro / Proteínas Mitocondriais Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Acta Neurol Belg Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Turquia País de publicação: Itália