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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-33638202

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Mitochondrial Myopathies / Peripheral Nervous System Diseases / Mitochondrial Trifunctional Protein / Lipid Metabolism, Inborn Errors / Cardiomyopathies / Nervous System Diseases Type of study: Diagnostic_studies / Risk_factors_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Inherit Metab Dis Year: 2021 Document type: Article Affiliation country: Germany Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Mitochondrial Myopathies / Peripheral Nervous System Diseases / Mitochondrial Trifunctional Protein / Lipid Metabolism, Inborn Errors / Cardiomyopathies / Nervous System Diseases Type of study: Diagnostic_studies / Risk_factors_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Inherit Metab Dis Year: 2021 Document type: Article Affiliation country: Germany Country of publication: United States