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The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Grünert, Sarah C; Eckenweiler, Matthias; Haas, Dorothea; Lindner, Martin; Tsiakas, Konstantinos; Santer, René; Tucci, Sara; Spiekerkoetter, Ute.
Afiliação
  • Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Eckenweiler M; Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Haas D; Department of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Lindner M; Department of Pediatric Neurology, University Children's Hospital, Frankfurt/Main, Germany.
  • Tsiakas K; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
  • Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
  • Tucci S; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Spiekerkoetter U; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
J Inherit Metab Dis ; 44(4): 893-902, 2021 07.
Article em En | MEDLINE | ID: mdl-33638202

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rabdomiólise / Miopatias Mitocondriais / Doenças do Sistema Nervoso Periférico / Proteína Mitocondrial Trifuncional / Erros Inatos do Metabolismo Lipídico / Cardiomiopatias / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rabdomiólise / Miopatias Mitocondriais / Doenças do Sistema Nervoso Periférico / Proteína Mitocondrial Trifuncional / Erros Inatos do Metabolismo Lipídico / Cardiomiopatias / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article