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Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
Naess, Karin; Bruhn, Helene; Stranneheim, Henrik; Freyer, Christoph; Wibom, Rolf; Mourier, Arnaud; Engvall, Martin; Nennesmo, Inger; Lesko, Nicole; Wredenberg, Anna; Wedell, Anna; von Döbeln, Ulrika.
Afiliação
  • Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden. Electronic address: karin.naess@ki.se.
  • Bruhn H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Stranneheim H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Freyer C; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Wibom R; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Mourier A; CNRS UMR 5095, Bordeaux Cedex, France; University of Bordeaux, EPST, IBGC UMR 5095, Bordeaux Cedex, France.
  • Engvall M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Nennesmo I; Clinical Pathology, Karolinska University Hospital, Department of Laboratory Medicine, Stockholm, Sweden.
  • Lesko N; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Wedell A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • von Döbeln U; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
J Pediatr ; 228: 240-251.e2, 2021 01.
Article em En | MEDLINE | ID: mdl-32827528
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Ubiquinona / Doenças Mitocondriais / Doenças Metabólicas / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos
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: DNA Mitocondrial / Ubiquinona / Doenças Mitocondriais / Doenças Metabólicas / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos