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Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset.
Capiau, Sara; Smet, Joél; De Paepe, Boel; Yildiz, Yilmaz; Arslan, Mutluay; Stevens, Olivier; Verschoore, Maxime; Stepman, Hedwig; Seneca, Sara; Vanlander, Arnaud.
Afiliação
  • Capiau S; Department of Laboratory Medicine, Ghent University Hospital, 9000 Ghent, Belgium.
  • Smet J; Department of Child Neurology & Metabolism, Ghent University Hospital, 9000 Ghent, Belgium.
  • De Paepe B; Laboratory for Mitochondrial Investigations, Ghent University, 9000 Ghent, Belgium.
  • Yildiz Y; Department of Child Neurology & Metabolism, Ghent University Hospital, 9000 Ghent, Belgium.
  • Arslan M; Laboratory for Mitochondrial Investigations, Ghent University, 9000 Ghent, Belgium.
  • Stevens O; Department of Pediatric Metabolism, Hacettepe University Ihsan Dogramaci Children's Hospital, Hacettepe 06230, Turkey.
  • Verschoore M; Pediatric Metabolic Diseases Unit, Gülhane Training and Research Hospital of the University of Health Sciences, Gülhane 06010, Turkey.
  • Stepman H; Department of Pediatric Neurology, Gülhane Training and Research Hospital of the University of Health Sciences, Gülhane 06010, Turkey.
  • Seneca S; Department of Neurology, Maria Middelares General Hospital, 9000 Ghent, Belgium.
  • Vanlander A; Department of Child Neurology & Metabolism, Ghent University Hospital, 9000 Ghent, Belgium.
Cells ; 11(3)2022 01 30.
Article em En | MEDLINE | ID: mdl-35159298

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / ATPases Mitocondriais Próton-Translocadoras Limite: Adolescent / Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / ATPases Mitocondriais Próton-Translocadoras Limite: Adolescent / Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article