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One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
Esterhuizen, Karien; Lindeque, J Zander; Mason, Shayne; van der Westhuizen, Francois H; Rodenburg, Richard J; de Laat, Paul; Smeitink, Jan A M; Janssen, Mirian C H; Louw, Roan.
Afiliação
  • Esterhuizen K; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.
  • Lindeque JZ; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.
  • Mason S; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.
  • van der Westhuizen FH; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.
  • Rodenburg RJ; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • de Laat P; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Smeitink JAM; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Janssen MCH; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Louw R; Department of Internal Medicine, Radboud Center for Mitochondrial Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Metabolomics ; 17(1): 10, 2021 01 12.
Article em En | MEDLINE | ID: mdl-33438095
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome MELAS / Doenças Mitocondriais / Surdez / Diabetes Mellitus Tipo 2 / Doenças Musculares / Mutação Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Metabolomics Ano de publicação: 2021 Tipo de documento: Article País de afiliação: África do Sul
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome MELAS / Doenças Mitocondriais / Surdez / Diabetes Mellitus Tipo 2 / Doenças Musculares / Mutação Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Metabolomics Ano de publicação: 2021 Tipo de documento: Article País de afiliação: África do Sul