Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

• Lucia Abela,

  Affiliations Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland, Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland, Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland

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• Ronen Spiegel,

  Affiliation Department of Pediatrics B, Emek Medical Center, Afula, Rappaport Faculty of Medicine, Technion, Israel

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• Lisa M. Crowther,

  Affiliations Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland, Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland, Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland

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• Andrea Klein,

  Current address: Pediatric Neurology, University of Basel Children’s Hospital, Basel, Switzerland

  Affiliation Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland

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• Katharina Steindl,

  Affiliations Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland, Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland

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• Sorina Mihaela Papuc,

  Affiliations Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland, Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland

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• Pascal Joset,

  Affiliations Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland, Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland

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• Yoav Zehavi,

  Affiliation Department of Pediatrics B, Emek Medical Center, Afula, Rappaport Faculty of Medicine, Technion, Israel

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• Anita Rauch,

  Affiliations Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland, Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland

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• Barbara Plecko,

  Affiliations Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland, Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland, Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland

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• Thomas Luke Simmons

  * E-mail: lukes@evolva.com

  Current address: Evolva AG, Reinach, Switzerland

  Affiliations Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland, Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland, Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland

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