About the Authors

Dirk J. Lefeber

Contributed equally to this work with: Dirk J. Lefeber, Arjan P. M. de Brouwer

D.Lefeber@neuro.umcn.nl

Affiliations Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Arjan P. M. de Brouwer

Contributed equally to this work with: Dirk J. Lefeber, Arjan P. M. de Brouwer

Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

Eva Morava

Affiliation Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Moniek Riemersma

Affiliation Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Janneke H. M. Schuurs-Hoeijmakers

Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

Birgit Absmanner

Affiliation Department of Cell Biology and Plant Biochemistry, University of Regensburg, Regensburg, Germany

Kiek Verrijp

Affiliation Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Willem M. R. van den Akker

Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

Karin Huijben

Affiliation Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Gerry Steenbergen

Affiliation Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Jeroen van Reeuwijk

Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

Adam Jozwiak

Affiliation Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland

Nili Zucker

Affiliation Heart Institute, Schneider Children's Medical Centre of Israel, Petach Tikwa, Israel

Avraham Lorber

Affiliation Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel

Martin Lammens

Affiliation Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Carlos Knopf

Affiliation Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel

Hans van Bokhoven

Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

Stephanie Grünewald

Affiliation Great Ormond Street Hospital, UCL Institute of Child Health, University College London, London, United Kingdom

Ludwig Lehle

Affiliation Department of Cell Biology and Plant Biochemistry, University of Regensburg, Regensburg, Germany

Livia Kapusta

Affiliation Pediatric Cardiology Unit, Edith Wolfson Medical Center, Holon, Israel

Hanna Mandel

These authors also contributed equally to this work.

Affiliation Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel

Ron A. Wevers

These authors also contributed equally to this work.

Affiliation Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: DJL APMdB EM HvB HM RAW. Performed the experiments: APMdB MR JHMS-H KV KH GS JvR AJ CK BA. Analyzed the data: DJL APMdB EM NZ AL ML SG LK HM LL. Contributed reagents/materials/analysis tools: AJ WMRvdA. Wrote the paper: DJL APMdB EM HM RAW.