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Network

David A. Weinstein

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program
  • Univ Florida, Florida State University System, University of Florida, Dept Pediat, Div Pediat Endocrinol, Glycogen Storage Dis Program
  • INSERM,U900
  • U1213
  • Lyon Univ, Lyon Sud Hosp, Aural
  • INSERM, Institut National de la Sante et de la Recherche Medicale (Inserm), U1176
  • University Claude Bernard Lyon 1
  • Univ Lyon, Universite de Lyon (ComUE), European Inst Syst Biol & Med
  • Hofstra Northwell Sch Med
  • Univ Florida, Florida State University System, University of Florida, Glycogen Storage Dis Program
  • Univ Connecticut, University of Connecticut, Ctr Hlth, Dept Psychiat
  • Central Connecticut State University
  • Univ Connecticut, University of Connecticut, Sch Med, Dept Pediat
  • Connecticut Childrens Med Ctr, Connecticut Children's Medical Center, Glycogen Storage Dis Program
  • Univ Connecticut, University of Connecticut, Sch Med, Glycogen Storage Dis Program
  • Univ Connecticut, Connecticut Children's Medical Center, University of Connecticut, Ctr Hlth, Connecticut Childrens Med Ctr, Asthma Ctr
  • Univ Connecticut, University of Connecticut, Hlth Ctr, Dept Pediat

External person

Margreet van Rijn

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Div Geriatr Med, Univ Ctr Geriatr Med
  • Beatrix Childrens Hosp, University of Groningen, GRIAC Res Inst, COPD
  • Bethesda Hosp, Dept Dietet
  • Univ Groningen
  • University of Groningen, Groningen
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Radiol, Ctr Med Imaging North East

External person

Annet M. Bosch

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Paediat
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Pediat, Emma Childrens Hosp
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr
  • St Maartens Clin, Dept Pediat Pediat Rheumatol
  • Emma Childrens Hosp, Acad Med Ctr
  • University of Amsterdam
  • Free University Amsterdam/NSCR, Amsterdam
  • Acad Med Ctr, Dept Dermatol
  • Div Metab Disorders
  • GRIAC Res Inst,Dept Paediat Pulmonol & Paediat Al
  • Free Univ Amsterdam Hosp, Vrije Universiteit Amsterdam
  • Univ Amsterdam, Academic Medical Center Amsterdam, University of Amsterdam, Emma Children's Hospital, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat
  • Amsterdam UMC Locat AMC, Emma Children's Hospital, University of Amsterdam, Dept Pediat Gastroenterol & Nutr, Emma Childrens Hosp
  • Univ Amsterdam, University of Amsterdam, Emma Children's Hospital, Amsterdam UMC, Emma Childrens Hosp, Dept Pediat Oncol

External person

Monique Williams

  • Erasmus University Rotterdam
  • Erasmus MC Sophia Childrens Hosp, Erasmus University Rotterdam, Dietet
  • St Maartens Clin, Dept Pediat Pediat Rheumatol
  • Erasmus Univ, Erasmus University Rotterdam, Fac Med
  • ErasmusMC Sophia Children's Hospital
  • MUMC, Dept Clin Chem
  • Univ Cambridge, University of Cambridge, Addenbrookes Hosp, Sch Clin Med, Inst Metab Sci,MRC,Epidemiol Unit
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Neurosci Campus Amsterdam
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Univ Med Ctr
  • LACDR, Vrije Universiteit Amsterdam
  • Med Psychiat Ctr PsyToBe
  • Maastricht Univ, Maastricht University, Lab Genet Metab Dis
  • Maastricht Univ, Maastricht University, Maastricht Univ Off
  • Maastricht University
  • Erasmus MC Univ Med Ctr, Erasmus University Rotterdam, Erasmus MC Ctr Lysosomal & Metab Dis, Dept Pediat, Div Metab Dis & Genet

External person

Hans R. Waterham

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis,Emma Childrens Hosp
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Lab Genet Metab Dis

External person

Gepke Visser

  • Univ Med Ctr Utrecht, University of Utrecht, Utrecht University Medical Center, Dept Metab Dis
  • Univ Med Ctr Utrecht, University of Utrecht, Utrecht University Medical Center, Wilhelmina Childrens Hosp, Dept Metab Dis
  • Radboud University Nijmegen Medical Centre
  • Wilhelmina Childrens Hosp, Dept Orthoped
  • Univ Med Ctr Utrecht, University of Utrecht, Utrecht University Medical Center, Ctr Mol Med, Regenerat Med Ctr Utrecht
  • Utrecht University
  • University Medical Center Utrecht
  • Univ Med Ctr Utrecht, Utrecht University, Utrecht University Medical Center, Wilhelmina Kinderziekenhuis, Wilhelmina Childrens Hosp, Dept Metab Dis
  • Univ Amsterdam, Emma Children's Hospital, University of Amsterdam, Emma Childrens Hosp, Dept Metab Dis, Amsterdam UMC

External person

Foekje de Boer

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Div Geriatr Med, Univ Ctr Geriatr Med
  • Beatrix Childrens Hosp, University of Groningen, GRIAC Res Inst, COPD
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Sect Metab Dis
  • Univ Groningen
  • University of Groningen, Groningen
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis

External person

Carolina F. M. de Souza

  • Hosp Clin Porto Alegre, Med Genet Serv
  • Hosp Clin Porto Alegre, Med Genet Serv

External person

Peter C. J. I. Schielen

  • Natl Inst Publ Hlth & Environm RIVM, Ctr Infect Dis Control, Natl Coordinat Ctr Communicable Dis Control
  • Centre for Nutrition and Health, National Institute for Public Health and Environment, Bilthoven, the Netherlands
  • Natl Inst Publ Hlth & Environm, Netherlands National Institute for Public Health & the Environment, Ctr Hlth Protect Res, Reference Lab Neonatal Screening
  • Natl Inst Publ Hlth & Environm RIVM, Netherlands National Institute for Public Health & the Environment, Ctr Hlth Protect

External person

Foekje de Boer

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis

External person

Margot F. Mulder

  • Vrije Univ Amsterdam, VU University Amsterdam, Med Ctr, Dept Paediat, Sect Metab Dis
  • Vrije Univ Amsterdam, University of Amsterdam, Vrije Universiteit Amsterdam, Dept Pediat Oncol Hematol, Amsterdam UMC

External person

M. Estela Rubio-Gozalbo

  • Maastricht Univ, Maastricht University, Med Ctr, Dept Pediat
  • Acad Med Ctr, Ctr Reprod Med
  • St Maartens Clin, Dept Pediat Pediat Rheumatol
  • Maastricht Univ, Maastricht University, Maastricht Univ Off
  • Maastricht Univ, Maastricht University, Lab Genet Metab Dis, Med Ctr
  • Maastricht University
  • AMC, Dept ENT & Pediat
  • Med Psychiat Ctr PsyToBe
  • Maastricht Univ, Med Ctr, Dept Pediat Surg
  • Maastricht Univ, Maastricht University, Pelv Care Ctr Maastricht, Med Ctr
  • Maastricht Univ, Maastricht University, Med Ctr, Dept Pediat & Lab Genet Metab Dis
  • Maastricht Univ, Maastricht University, Dept Pediat & Clin Genet, Med Ctr

External person

Fabienne Rajas

  • INSERM, Institut National de la Sante et de la Recherche Medicale (Inserm), U855
  • Univ Lyon, PRES University of Lyon, CERMEP
  • Univ Lyon 1, PRES University of Lyon, University of Claude Bernard - Lyon 1, CRAL, Observ Lyon
  • EnerGQcare BV
  • INSERM, U1213
  • Lyon Univ, Assoc Utilisat Rein Artificiel Lyon
  • Natl Inst Hlth & Med Res, Institut National de la Sante et de la Recherche Medicale (Inserm), U1213
  • Univ Lyon, Universite de Lyon (ComUE), CHU Lyon, Lyon 1 Univ, Hosp Civils Lyon, CRNH RA
  • Univ Claude Bernard Lyon 1, Universite Claude Bernard Lyon 1, CHU Lyon, Universite de Lyon (ComUE), GHE

External person

Charlotte M. A. Lubout

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis
  • Univ Amsterdam, Emma Children's Hospital, University of Amsterdam, Amsterdam Gastroenterol & Metab Res Inst, Emma Childrens Hosp, Dept Pediat Metab Dis,Med Ctr
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis
  • Amsterdam UMC Locat AMC, Emma Children's Hospital, University of Amsterdam, Dept Pediat Gastroenterol & Nutr, Emma Childrens Hosp

External person

Ronald J. A. Wanders

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Lab Genet Metab Dis
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis,Emma Childrens Hosp
  • Acad Med Ctr, University of Amsterdam, Academic Medical Center Amsterdam, Dept Clin Chem, Lab Genet Metab Dis
  • Amsterdam Inst Gastroenterol & Metab AG&M
  • Univ Amsterdam, Academic Medical Center Amsterdam, University of Amsterdam, Emma Children's Hospital, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat
  • Univ Amsterdam, Emma Children's Hospital, University of Amsterdam, Emma Childrens Hosp, Dept Metab Dis, Amsterdam UMC
  • Univ Amsterdam, University of Amsterdam, Lab Genet Metab Dis, Amsterdam UMC, Amsterdam Gastroenterol & Metab,Amsterdam Cardiov
  • Univ Amsterdam, University of Amsterdam, Amsterdam UMC, Amsterdam Gastroenterol Endocrinol Metab, Lab Genet Metab Dis,Dept Pediat

External person

Saskia B. Wortmann

  • Med Univ Vienna, Medical University of Vienna, Dept Pediat Surg, Res Core Unit Pediat Biochem
  • Salzburger Landeskliniken SALK
  • PMU
  • Paracelsus Med Univ, Paracelsus Private Medical University, Dept Dermatol
  • Univ Hlth Serv Gottingen, Inst Human Genet
  • Institute for Biological and Medical Imaging, Helmholtz Zentrum Munich
  • Gesell Schwerionenforsch GmbH, Helmholtz Association
  • Helmholtz Zentrum Munchen, Neuherberg, Germany
  • Tech Univ Munich, Technical University of Munich, University of Munich
  • PMU, Paracelsus Private Medical University, Univ Childrens Hosp
  • German Res Ctr Environm Hlth, Helmholtz Association, Helmholtz-Center Munich - German Research Center for Environmental Health, Helmholtz Zentrum Munchen, Inst Human Genet
  • Tech Univ Munich, Technical University of Munich, Inst Human Genet, Klinikum Rechts Isar
  • Salzburger Landeskliniken & Paracelsus Med Univ, Paracelsus Private Medical University, Dept Pediat

External person

Ida V D Schwartz

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Postgrad Program Genet & Mol Biol
  • Hosp Clin Porto Alegre, Med Genet Serv
  • Univ Fed Porto Alegre, Dept Genet

External person

Frits A. Wijburg

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Pediat
  • Univ Amsterdam, University of Amsterdam, Amsterdam Lysosome Ctr Sphinx
  • St Maartens Clin, Dept Pediat Pediat Rheumatol
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr
  • Univ Amsterdam, Emma Children's Hospital, University of Amsterdam, Emma Childrens Hosp, Dept Metab Dis, Amsterdam UMC
  • Univ Med Ctr, Emma Children's Hospital, University of Amsterdam, Vrije Universiteit Amsterdam, Emma Childrens Hosp, Locat AMC, Dept Pediat Hematol

External person

Koen Venema

  • TNO Qual Life, Netherlands Organization Applied Science Research, Dept Biosci
  • Netherlands Org Appl Sci Res TNO, Netherlands Organization Applied Science Research, Behav & Societal Sci
  • Beneficial Microbes Consultancy
  • Netherlands Org Appl Sci Res TNO, Netherlands Organization Applied Science Research
  • Top Inst Food & Nutr, Top Institute Food & Nutrition
  • Maastricht Univ, Maastricht University, Sch Nutr & Translat Res Metab NUTRIM, Fac Hlth Med & Life Sci, Dept Human Biol
  • Maastricht Univ, Maastricht University, Ctr Hlth Eating & Food Innovat, Food Innovat & Hlth Res

External person

Johan L K Van Hove

  • Univ Colorado, University of Colorado System, University of Colorado Anschutz Medical Campus, Dept Pediat, Sect Clin Genet & Metab
  • Univ Colorado, Children's Hospital Colorado, University of Colorado System, University of Colorado Anschutz Medical Campus, Childrens Hosp Colorado, Sect Clin Genet & Metab, Dept Pediat

External person

Gilles Mithieux

  • INSERM, Institut National de la Sante et de la Recherche Medicale (Inserm), U855
  • Univ Lyon, PRES University of Lyon, CERMEP
  • Univ Lyon 1, PRES University of Lyon, University of Claude Bernard - Lyon 1, CRAL, Observ Lyon
  • INSERM, U1213
  • Lyon Univ, Assoc Utilisat Rein Artificiel Lyon
  • Univ Lyon, Institut National de la Sante et de la Recherche Medicale (Inserm), INSERM U1213, Fac Med Laennec
  • Natl Inst Hlth & Med Res, Institut National de la Sante et de la Recherche Medicale (Inserm), U1213
  • Univ Lyon, Universite de Lyon (ComUE), CHU Lyon, Lyon 1 Univ, Hosp Civils Lyon, CRNH RA
  • Univ Claude Bernard Lyon 1, Universite Claude Bernard Lyon 1, CHU Lyon, Universite de Lyon (ComUE), GHE

External person

Rob Burghard

  • Erasmus MC Sophia Kinderziekenhuis
  • Erasmus Univ, Erasmus University Rotterdam, Fac Med
  • Erasmus University Rotterdam
  • EnerGQcare BV
  • EnerGQ BV

External person

Sacha Ferdinandusse

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis,Emma Childrens Hosp
  • Univ Amsterdam, University of Amsterdam, Lab Genet Metab Dis, Amsterdam UMC, Amsterdam Gastroenterol & Metab,Amsterdam Cardiov

External person

Ulrike Steuerwald

  • Natl Hosp Syst, Med Ctr
  • Natl Hosp Faroe Isl, Med Ctr

External person

Marieke J Fokkert-Wilts

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis

External person

Ingrid D S Perry

  • Hosp Clin Porto Alegre, Food & Nutr Res Ctr
  • Univ Extremo Sul Criciuma, Hlth Unit

External person

Willemijn F Boonstra

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis

External person

Richard J. Rodenburg

  • Radboud University Nijmegen Medical Centre
  • Med Psychiat Ctr PsyToBe
  • AMC, Dept ENT & Pediat
  • Radboud University Nijmegen
  • Translational Metabolic Laboratory
  • Nijmegen Centre for Mitochondrial Disorders

External person

Jan A. M. Smeitink

  • Radboud University Nijmegen Medical Centre
  • Med Psychiat Ctr PsyToBe
  • AMC, Dept ENT & Pediat
  • Radboud University Nijmegen

External person

Alex Veldman

  • Orphatec Colbourne Pharmaceut
  • Monash Univ, Monash University, Monash Newborn, Monash Med Ctr, Ritchie Ctr,Hudson Inst Med Res
  • Monash Univ, Monash University, Dept Paediat

External person

Thomas A H Steunenberg

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Div Geriatr Med, Univ Ctr Geriatr Med
  • Beatrix Childrens Hosp, University of Groningen, GRIAC Res Inst, COPD
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Sect Metab Dis
  • Univ Groningen
  • University of Groningen, Groningen
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis

External person

Ida Vanessa D. Schwartz

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Postgrad Program Genet & Mol Biol
  • Hosp Clin Porto Alegre, Lab Basic Res & Adv Invest Neurosci
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Dept Genet
  • Hosp Clin Porto Alegre, Med Genet Serv

External person

Hidde Huidekoper

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Pediat
  • Univ Hosp, Erasmus University Medical Center, Erasmus University Rotterdam, Erasmus Med Ctr, Ctr Lysosomal & Metab Dis, Dept Pediat

External person

Matthias Gautschi

  • Inselspital Bern, University of Bern, Univ Klinikum Kinderheilkunde
  • Univ Bern, University of Bern, University Hospital of Bern, Univ Hosp Bern, Dept Pediat Endocrinol Diabetol & Metab, Inselspital
  • Univ Bern, University of Bern, University Hospital of Bern, Univ Inst Clin Chem, Inselspital

External person

Mirian C. H. Janssen

  • Radboud University Nijmegen Medical Centre
  • Radboud University Nijmegen

External person

Patrick J McKiernan

  • Birmingham Childrens Hosp, University of Birmingham, Dept Metab Dis
  • Birmingham Childrens Hosp, University of Birmingham, Hepatol

External person

Joris A. Veltman

  • Radboud University Nijmegen Medical Centre
  • Leiden Univ, Med Ctr, Dept Human Genet
  • Radboud University Nijmegen
  • Int Ctr Life, NE England Stem Cell Inst Life
  • Inst Med & Human Genet
  • Univ Newcastle, Newcastle University
  • Med Psychiat Ctr PsyToBe
  • EMC, Dept Clin Genet
  • Maastricht Univ, Maastricht University, Maastricht Univ Off
  • Maastricht University
  • Telethon Inst Genet & Med
  • Newcastle Univ, Newcastle University - UK, Int Ctr Life, Inst Genet Med
  • Department of Human Genetics
  • Department of Clinical Genetics
  • Limburg University
  • Newcastle Univ, Newcastle University, Inst Genet Med
  • Childrens Mem Hlth Inst, Children's Memorial Health Institute, Dept Gastroenterol Feeding Disorders & Pediat
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Pediat, Sect Mol Metab & Nutr

External person

Anita MacDonald

  • Birmingham Childrens Hosp, University of Birmingham, Dietet Dept
  • Birmingham Childrens Hosp, University of Birmingham
  • Childrens Hosp
  • Birmingham Childrens Hosp, University of Birmingham, Hepatol
  • University of Birmingham
  • Bethesda Hosp, Dept Dietet
  • Birmingham Childrens Hosp, University of Birmingham, Dept Metab Dis
  • Childrens Hosp, Dietet Dept
  • Nutricia Res, Danone Nutricia, Adv Med Nutr, Gut & Microbiol Platform
  • Birmingham Womens & Childrens Hosp, Birmingham Women's Hospital

External person

Liesbeth T. M. Wintjes

  • Med Psychiat Ctr PsyToBe
  • Radboud University Nijmegen Medical Centre
  • AMC, Dept ENT & Pediat
  • Radboud University Nijmegen

External person

Sharita Timal

  • Med Psychiat Ctr PsyToBe
  • Radboud University Nijmegen Medical Centre
  • AMC, Dept ENT & Pediat
  • Radboud University Nijmegen
  • Translational Metabolic Laboratory
  • Department of Neurology

External person

Sebastiaan Te Boekhorst

  • RD Connect & NephcEurope Fdn, Patient Advisory Council

External person

Ger J. M. Pruijn

  • Radboud University Nijmegen
  • Radboud University Nijmegen Medical Centre
  • Med Psychiat Ctr PsyToBe

External person

Derk P Allersma

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Clin Pharm & Pharmacol
  • Department of Clinical Pharmacy and Pharmacology
  • Universitair Medisch Centrum

External person

Dirk Lefeber

  • Vrije Universiteit Brussel
  • Department of Mechanical Engineering
  • Med Psychiat Ctr PsyToBe
  • Radboud University Nijmegen Medical Centre
  • Radboud University Nijmegen

External person

Laurie M Brown

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program

External person

Lindsey Welling

  • St Maartens Clin, Dept Pediat Pediat Rheumatol
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr

External person

Catharina M L Volker-Touw

  • Univ Med Ctr Utrecht, Utrecht University Medical Center, University of Utrecht, Ctr Mol Med, Dept Genet, Div Biomed Genet

External person

Fernanda Sperb-Ludwig

  • Hosp Clin Porto Alegre, Lab Basic Res & Adv Invest Neurosci

External person

Jerry Vockley

  • Univ Pittsburgh, Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Pittsburgh, Dept Mol Genet & Biochem
  • UPMC, Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Pittsburgh, Univ Pittsburgh, Div Med Genet, Dept Pediat,Childrens Hosp Pittsburgh
  • UPMC, Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Pittsburgh, Childrens Hosp Pittsburgh, Dept Pediat Neurol

External person

Mario T R van Wandelen

  • Netherlands Org Appl Sci Res TNO, Netherlands Organization Applied Science Research, Behav & Societal Sci
  • Netherlands Org Appl Sci Res TNO, Netherlands Organization Applied Science Research

External person

Guenter Schwarz

  • Univ Cologne, University of Cologne, Ctr Mol Med Cologne, Dept Chem, Inst Biochem,CECAD Cologne
  • Orphatec Colbourne Pharmaceut

External person

Michael T. Geraghty

  • Univ Ottawa, University of Ottawa, Dept Pediat, CHEO
  • Childrens Hosp Eastern Ontario, University of Ottawa, Dept Pediat, Div Metabol & Newborn Screening

External person

Robin H L Lachmann

  • Natl Hosp Neurol & Neurosurg, UCL Medical School, University of London, University College London Hospitals NHS Foundation Trust, University College London, Charles Dent Metab Unit

External person

Gideon J. Du Marchie Sarvaas

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Ctr Congenital Heart Dis
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Ctr Congenital Heart Dis,Dept Pediat Cardiol
  • Univ Med Ctr, University of Groningen, Dept Pediat Cardiol
  • Univ Med Ctr Groningen, University of Groningen, Beatrix Childrens Hosp, Dept Pediat Cardiol
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Div Geriatr Med, Univ Ctr Geriatr Med
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Ctr Congenital Heart Dis, Dept Pediat Cardiol,Ctr Cogenital Heart Dis
  • Univ Groningen, University of Groningen
  • Univ Med Ctr Groningen, University of Groningen, Beatrix Childrens Hosp
  • Leiden Univ, Med Ctr, Div Pediat Cardiol, Dept Pediat
  • University of Groningen
  • Beatrix Childrens Hosp, University of Groningen, GRIAC Res Inst, COPD
  • Univ Groningen
  • University of Groningen, Groningen
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Pediat Cardiol, Ctr Congenital Heart Dis
  • Leiden Univ, Leiden University, Med Ctr, Dept Clin Genet, LDGA
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Ctr Congenital Heart Dis,Dutch Natl Referral Ctr
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Ctr Congenital Heart Dis, Dept Paediat Cardiol,Beatrix Childrens Hosp

External person

Anne Vierzig

  • Univ Cologne, University of Cologne, Paediat Intens Care, Univ Childrens Hosp

External person

Kai Koenig

  • Mercy Hosp Women, Dept Pediat

External person

Irene L Kok

  • Univ Med Ctr Utrecht, Utrecht University, Utrecht University Medical Center, Wilhelmina Kinderziekenhuis, Wilhelmina Childrens Hosp, Dept Metab Dis

External person

Ute Spiekerkoetter

  • Univ Freiburg Klinikum, University of Freiburg, Allgemeine Kinderheilkunde & Jugendmed

External person

Drago Bratkovic

  • Women & Childrens Hosp Adelaide, SA Pathology, SA Pathol

External person

Rene Santer

  • Univ Hamburg, University of Hamburg, Hosp Eppendorf, Childrens Hosp, Dept Pediat Gastroenterol & Nutr
  • Univ Klinikum Hamburg Eppendorf, University of Hamburg

External person

Pete J Cox

  • Univ Oxford, University of Oxford, Dept Physiol Anat & Genet

External person

Ulrich Brandt

  • Med Psychiat Ctr PsyToBe
  • Radboud University Nijmegen Medical Centre
  • AMC, Dept ENT & Pediat
  • Radboud University Nijmegen

External person

Sonja Marina Schlatter

  • Univ Freiburg, University of Freiburg, Med Ctr, Ctr Pediat, Dept Gen Pediat Adolescent Med & Neonatol
  • MGZ Med Genet Ctr
  • MSB Med Sch Berlin, Fac Nat Sci
  • Univ Freiburg, University of Freiburg, Fak Phys

External person

Evangeline Wassmer

  • Birmingham Childrens Hosp, University of Birmingham
  • Birmingham Womens & Childrens Hosp, Birmingham Women's Hospital, Dept Neurol

External person

Tamar Paperna

  • Rambam Hlth Care Campus, Rambam Health Care Campus, Genet Inst

External person

Hayley Salvemini

  • Women & Childrens Hosp Adelaide, SA Pathology, SA Pathol

External person

Daphne M. van Beek

  • Vrije Univ Amsterdam, VU University Amsterdam, Med Ctr, Sect Community Genet, Dept Clin Genet & Human Genet

External person

Quinten Waisfisz

  • Vrije Univ Amsterdam, VU University Amsterdam, Med Ctr, Sect Community Genet, Dept Clin Genet & Human Genet
  • Vrije Univ Amsterdam, VU University Amsterdam, Med Ctr Amsterdam, Dept Clin Genet
  • Vrije Univ Amsterdam, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam UMC, Dept Clin Genet

External person

Sara Siegel

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program
  • Univ Penn, University of Pennsylvania, Perelman Sch Med, Dept Psychiat, Ctr Neurobiol & Behav
  • Univ So Calif, University of Southern California, Keck Sch Med, Dept Psychiat

External person

Christopher Lumpkin

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program

External person

Patrick C. N. Rensen

  • Leiden Univ, Leiden University, Med Ctr, Dept Med, Div Endocrinol
  • Leiden Univ, Leiden University, Med Ctr, Einthoven Lab Expt Vasc Med
  • Med Psychiat Ctr PsyToBe
  • Depertment Endocrinol
  • Leiden Univ, Leiden University, LUCL Leiden Univ Ctr Linguist
  • Leiden University
  • Leiden Univ, Leiden University, Med Ctr, Einthoven Lab Expt Vasc Med, Dept Med,Div Nephrol
  • Leiden Univ, Leiden University, Med Ctr, Div Endocrinol, Dept Internal Med

External person

Ilona Weis

  • Gemeinschaftsklinikum Koblenz Mayen, Childrens Hosp

External person

Marjo S. van der Knaap

  • Vrije Univ Amsterdam, VU University Amsterdam, Ctr Med, Dept Child Neurol
  • Neurosci Campus Amsterdam
  • Vrije Univ Amsterdam, VU University Amsterdam, Ctr Neurogen & Cognit Res, Dept Funct Genom
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Dept Pediat Child Neurol, Med Ctr, Amsterdam Neurosci
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Amsterdam Neurosci, Ctr Neurogen & Cognit Res, Dept Funct Genom
  • Vrije Univ Amsterdam, Emma Children's Hospital, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Child Neurol,Ctr Childhood White Matter Dis
  • Vrije Univ Amsterdam, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam UMC, Dept Anat & Neurosci, Amsterdam Neurosci

External person

David Bick

  • HudsonAlpha Inst Biotechnol, HudsonAlpha Institute for Biotechnology

External person

Theo H van Dijk

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Lab Med
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Ctr Liver Digest & Metab Dis, Dept Lab Med

External person

Ileana Ferrero

  • Univ Parma, University of Parma, Dept Chem Life Sci & Environm Sustainabil

External person

Marinus Duran

  • Univ Amsterdam, University of Amsterdam, Academic Medical Center Amsterdam, Acad Med Ctr, Lab Genet Metab Dis

External person

Johannes A. Romijn

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Expt Internal Med, Lab Expt Internal Med
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Med
  • Univ Amsterdam, University of Amsterdam, Academic Medical Center Amsterdam, Acad Med Ctr, Dept Internal Med
  • Locat VU Univ Med Ctr, VU UNIVERSITY MEDICAL CENTER, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Dept Epidemiol & Biostat
  • Univ Amsterdam, Academic Medical Center Amsterdam, University of Amsterdam, Acad Med Ctr, AMC Dept Internal Med, Geriatr

External person

Patrick T Ryan

  • Connecticut Childrens Med Ctr, Connecticut Children's Medical Center, Glycogen Storage Dis Program

External person

Maurizio Scarpa

  • Univ Hosp Udine, University of Udine, University Hospital of Udine, Reg Ctr Rare Dis, MetabERN

External person

Iris Ferrecchia

  • Univ Connecticut, University of Connecticut, Sch Med, Glycogen Storage Dis Program
  • Univ Connecticut, Connecticut Children's Medical Center, University of Connecticut, Ctr Hlth, Connecticut Childrens Med Ctr, Asthma Ctr
  • Assoc Glycogen Storage Dis

External person

Eric Wartchow

  • Univ Colorado, Children's Hospital Colorado, University of Colorado System, University of Colorado Health Science Center, Childrens Hosp Colorado, Dept Pathol

External person

Bernd C. Schwahn

  • NHS Greater Glasgow & Clyde, University of Glasgow, Royal Hosp Sick Children
  • Cent Manchester Univ Hosp NHS Fdn Trust, University of Manchester, St Marys Hosp, Willink Biochem Genet Unit

External person

Martijn C. G. J. Brouwers

  • Maastricht Univ, Maastricht University, Med Ctr, Dept Internal Med & Endocrinol
  • OLVG, Dept Internal Med
  • Maastricht University
  • Maastricht Univ, Maastricht University, Med Ctr, Dept Internal Med, Div Endocrinol & Metab Dis
  • Maastricht Univ, Maastricht University, Pelv Care Ctr Maastricht, Med Ctr

External person

Mirjam Langeveld

  • Univ Amsterdam, University of Amsterdam, Amsterdam UMC, Dept Endocrinol & Metab

External person

Cristina Dallabona

  • Univ Parma, University of Parma, Dept Chem Life Sci & Environm Sustainabil

External person

Katherine Cowan

  • Univ Southampton, University of Southampton, James Lind Alliance

External person

Christian Staufner

  • Dept Gen Visceral Thorac Transplantat & Pediat Su
  • Div Neuropediat & Pediat Metab Med
  • Univ Heidelberg Hosp, Ruprecht Karl University Heidelberg, Dept Gen Psychiat
  • UNIV HEIDELBERG, Ruprecht Karl University Heidelberg
  • Univ Hosp Heidelberg, Ruprecht Karls University Heidelberg, Ctr Pediat & Adolescent Med, Div Neuropediat & Pediat Metab Med

External person

Caroline T Carreras

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program

External person

Peter Witters

  • Dept Paediat Gastroenterol Hepatol & Nutr
  • Universitair Ziekenhuis Leuven
  • KU Leuven
  • University Hospital Leuven
  • Liver Unit
  • Birmingham Children's Hospital
  • UZ, Ctr Metab Dis
  • Katholieke Univ Leuven, KU Leuven, Univ Leuven, Translat MRI

External person

Cristina Gonzalez-Estevez

  • Univ Nottingham, University of Nottingham, Queens Med Ctr, Ctr Genet & Genom, Dept Dev Genet & Gene Control
  • Univ Autonoma Madrid, Autonomous University of Madrid, CSIC - Instituto de Investigaciones Biomedicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Cientificas (CSIC), CSIC, Inst Invest Biomed Alberto Sols, Dept Bioquim
  • Univ Autonoma Madrid, CIBERER, CIBER - Centro de Investigacion Biomedica en Red, Autonomous University of Madrid, Fac Med, Ctr Invest Biomed Red Enfermedades Raras CIBERER
  • Hosp 12 Octubre Imas12, Hospital Universitario 12 de Octubre, Inst Invest Sanit

External person

Diego Martinelli

  • IRCCS, Bambino Gesu Childrens Hospital, IRCCS Santa Lucia, Bambino Gesu Childrens Hosp, Div Metab

External person

Ronald G H J Maatman

  • Medlon, Dept Clin Chem

External person

Saikat Santra

  • Birmingham Childrens Hosp, University of Birmingham
  • Birmingham Childrens Hosp, University of Birmingham, Dietet Dept
  • Birmingham Womens & Childrens Hosp, Birmingham Women's Hospital
  • Birmingham Childrens Hosp, University of Birmingham, Dept Metab Dis
  • Birmingham Womens & Childrens NHS Fdn Trust

External person

David Gil-Ortega

  • Hosp Univ Virgen Arrixaca, Hospital Clinico Universitario Virgen de la Arrixaca, Dept Pediat Gastroenterol

External person

Robert G. T. Blokpoel

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Pediat Intens Care
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Paediat Crit Care Med,Dept Paediat
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Paediat,Div Paediat Intens Care
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Pediat,Div Pediat Crit Care Med

External person

Caroline Gimbert

  • Assoc Francophone Glycogenoses

External person

Jirair K Bedoyan

  • Cleveland Med Ctr, Case Western Reserve University, Case Western Reserve University Hospital, University Hospitals of Cleveland, US Department of Veterans Affairs, Veterans Health Administration (VHA), Louis Stokes Cleveland Veterans Affairs Medical Center, Univ Hosp, Ctr Inherited Disorders Energy Metab

External person

Jennifer van der Krogt

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Lab Med, Lab Metab Dis

External person

J. M. M. Rondeel

  • Isala Hosp, Dept Clin Chem
  • MUMC, Dept Clin Chem
  • Isala
  • Isala Klin, Isala Clinics, Dept Rehabil Med

External person

Arend Heerschap

  • Radboud University Nijmegen Medical Centre

External person

Tracy L. McGregor

  • Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Pediat
  • Monroe Carell Jr Childrens Hosp Vanderbilt, Vanderbilt University

External person

Dariusz Rokicki

  • Childrens Mem Hlth Inst, Children's Memorial Health Institute, Dept Pediat Nutr & Metab Disorders

External person

D. Cassiman

  • Universitair Ziekenhuis Leuven
  • Katholieke Univ Leuven

External person

Johanna M. P. van den Hout

  • Erasmus MC Univ Med Ctr, Erasmus University Rotterdam, Erasmus MC Ctr Lysosomal & Metab Dis, Dept Child Neurol
  • Erasmus MC Univ Med Ctr, Erasmus University Rotterdam, Erasmus MC Ctr Lysosomal & Metab Dis, Dept Pediat, Div Metab Dis & Genet
  • Erasmus MC, Erasmus University Medical Center, Erasmus University Rotterdam, Ctr Lysosomal & Metab Dis
  • Erasmus MC Univ Med Ctr, Erasmus University Rotterdam, Erasmus University Medical Center, Dept Pediat, Div Metab Dis & Genet
  • Erasmus MC, Erasmus University Rotterdam, Erasmus MC, Dept Pediat Urol

External person

Nicole I. Wolf

  • Vrije Univ Amsterdam, VU University Amsterdam, Ctr Med, Dept Child Neurol
  • Neurosci Campus Amsterdam
  • Maastricht UMC, Maastricht University, Child Neurol, Dept Neurol
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Univ Med Ctr
  • LACDR, Vrije Universiteit Amsterdam
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Neurosci Campus Amsterdam
  • Vrije Univ Amsterdam Med Ctr, Vrije Universiteit Amsterdam, Dept Child Neurol
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Med Ctr, Dept Psychiat & Neurosci Campus Amsterdam
  • Vrije Univ Amsterdam, Emma Children's Hospital, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Child Neurol
  • Vrije Univ Amsterdam, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam UMC, Dept Anat & Neurosci, Amsterdam Neurosci

External person

Maud Soty

  • INSERM, U1213
  • Lyon Univ, Assoc Utilisat Rein Artificiel Lyon

External person

Hanna Mandel

  • Technion Israel Inst Technol, Technion Israel Institute of Technology, Ruth & Bruce Rappaport Fac Med
  • Rambam Hlth Care Campus, Rambam Health Care Campus, Metab Unit

External person

Flora Y. Wong

  • Monash Univ, Monash University, Monash Newborn, Monash Med Ctr, Ritchie Ctr,Hudson Inst Med Res
  • Monash Univ, Monash University, Dept Paediat
  • Monash Univ, Monash University, Monash Micro Imaging
  • Monash Childrens Hosp, Dept Paediat Infect Dis

External person

Maciej J. Szukszto

  • Univ Cambridge, University of Cambridge, Mitochondrial Biol Unit, Med Res Council

External person

Kimihiko Oishi

  • Icahn Sch Med Mt Sinai, Icahn School of Medicine at Mount Sinai, Dept Genet & Genom Sci

External person

John Ottoson

  • Univ Colorado, University of Colorado System, University of Colorado Health Science Center, Dept Pediat, Sect Clin Genet & Metab

External person

Louis M. Havekes

  • Netherlands Org Appl Sci Res TNO, Netherlands Organization Applied Science Research, Dept Metab Hlth Res, TNO Metab Hlth Res
  • Leiden Univ, Leiden University, Dept Endocrinol & Metab, Med Ctr Leiden
  • Leiden Univ, Leiden University, Med Ctr, Dept Med, Div Endocrinol
  • Leiden Univ, Leiden University, Med Ctr, Einthoven Lab Expt Vasc Med
  • Leiden Univ, Leiden University, Med Ctr, Dept Cardiol

External person

Carolyn J Ellaway

  • Univ Sydney, University of Sydney, Sydney Childrens Hosp Network, Genet Metab Disorders Serv, Disciplines Genet Med & Child & Adolescent Hlth

External person

Jolanda H. Schieving

  • Radboud University Nijmegen Medical Centre
  • Med Psychiat Ctr PsyToBe
  • Canisius Hosp, Dept Pediat Neurol
  • Radboud University Nijmegen

External person

Giovanna Negretto

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, HCPA, Serv Genet Med
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Programa Posgrad & Ciencias Farmaceut

External person

Marja Schoenmakers

  • Univ Childrens Hosp & Med Ctr, Child Dev & Exercise Ctr

External person

Thomas Casswall

  • Karolinska University Hospital
  • Karolinska Inst, Karolinska Institutet, CLINTEC, Div Surg

External person

Kate Hoyt

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program

External person

Henk Wolters

  • University of Twente
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Pediat Pulmonol & Pediat Allergy
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Pediat, Sect Mol Metab
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Pediat, Sect Nutr

External person

Christopher A. Powell

  • Univ Cambridge, University of Cambridge, Mitochondrial Biol Unit, Med Res Council

External person

Carla E. M. Hollak

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Div Endocrinol & Metab, Dept Internal Med
  • Univ Amsterdam, University of Amsterdam, Amsterdam Lysosome Ctr Sphinx
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Internal Med, Dept Global Hlth
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr
  • Sionsberg, Dept Internal Med
  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Internal Med, Div Endocrinol & Metab
  • University of Amsterdam
  • Free University Amsterdam/NSCR, Amsterdam
  • Acad Med Ctr, Dept Dermatol
  • Acad Med Ctr, Academic Medical Center Amsterdam, University of Amsterdam, Div Endocrinol & Metab, Dept Internal Med
  • Univ Amsterdam, University of Amsterdam, Academic Medical Center Amsterdam, Acad Med Ctr, Div Endocrinol & Metab, Dept Internal Med
  • Univ Amsterdam, Academic Medical Center Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab
  • Amsterdam UMC Locat AMC, Div Endocrinol & Metab, Dept Internal Med

External person

Wolfgang Sperl

  • Med Univ Vienna, Medical University of Vienna, Dept Pediat Surg, Res Core Unit Pediat Biochem
  • Salzburger Landeskliniken SALK
  • PMU
  • Paracelsus Med Univ, Paracelsus Private Medical University, Dept Dermatol
  • Paracelsus Med Univ Salzburg, Paracelsus Private Medical University, Div Mol Dermatol, Dept Dermatol

External person

Riekelt H Houtkooper

  • Acad Med Ctr, University of Amsterdam, Academic Medical Center Amsterdam, Dept Clin Chem, Lab Genet Metab Dis
  • Amsterdam Inst Gastroenterol & Metab AG&M
  • Univ Amsterdam, University of Amsterdam, Lab Genet Metab Dis, Amsterdam UMC, Amsterdam Gastroenterol & Metab,Amsterdam Cardiov
  • Amsterdam Cardiovasc Sci, Lab Genet Metab Dis, Amsterdam Gastroenterol & Metab
  • Univ Amsterdam, University of Amsterdam, Amsterdam UMC, Amsterdam Cardiovasc Sci, Lab Genet Metab Dis,Amsterdam Gastroenterol & Met
  • Ecole Polytech Fed Lausanne, Ecole Polytechnique Federale de Lausanne, Insitute Mat

External person

Giovana B. Biancini

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, HCPA, Serv Genet Med
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Dept Bioquim, Inst Ciencias Basicas Saude

External person

Uta Meyer

  • Hannover Med Sch, Hannover Medical School, Clin Paediat Kidney Liver & Metab Dis
  • Hannover Med Sch, Hannover Medical School, Dept Dietet

External person

Hendrik J. ter Horst

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Neonatol
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Neonatol

External person

Ute Stachelhaus-Theimer

  • Selbsthilfegrp Glykogenose Deutschland eV

External person

J. C. de Jongste

  • Sophia Childrens Univ Hosp, Erasmus University Rotterdam, Sophia Children's Hospital, Erasmus Univ Med Ctr, Dept Pediat, Div Resp Med
  • Erasmus Univ, Erasmus University Rotterdam, Sophia Children's Hospital, Div Resp Med, Sophia Childrens Hosp, Dept Pediat,Med Ctr
  • Erasmus MC Sophia Childrens Hosp, Erasmus University Rotterdam, Dietet
  • Sophia Childrens Univ Hosp, Erasmus University Rotterdam, Sophia Children's Hospital, Erasmus Med Ctr, Div Resp Med, Dept Paediat
  • Meander Med Ctr, Dept Pediat
  • Erasmus Univ, Erasmus University Rotterdam, Fac Med
  • Erasmus University Rotterdam
  • ErasmusMC Sophia Children's Hospital

External person

Carmen R. Vargas

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, HCPA, Serv Genet Med
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Programa Posgrad & Ciencias Farmaceut
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Dept Bioquim, Inst Ciencias Basicas Saude

External person

Julia B. Hennermann

  • Johannes Gutenberg Univ Mainz, Johannes Gutenberg University of Mainz, Villa Metab, Ctr Pediat & Adolescent Med, Univ Med Ctr

External person

Pedro F. Rebelo-Guiomar

  • Univ Cambridge, University of Cambridge, Mitochondrial Biol Unit, Med Res Council
  • Univ Porto, Universidade do Porto, Grad Program Areas Basic & Appl Biol GABBA

External person

Jose Angel Santamaria-Araujo

  • Orphatec Colbourne Pharmaceut

External person

Graziela S. Ribas

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, HCPA, Serv Genet Med
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Programa Posgrad & Ciencias Farmaceut

External person

Hagit N. Baris

  • Rambam Hlth Care Campus, Rambam Health Care Campus, Genet Inst
  • Technion Israel Inst Technol, Technion Israel Institute of Technology, Ruth & Bruce Rappaport Fac Med
  • Technion Israel Inst Technol, Technion Israel Institute of Technology, Rappaport Family Fac Med
  • Genet Inst Inc, Rambam Health Care Campus

External person

Adi Mory

  • Rambam Hlth Care Campus, Rambam Health Care Campus, Genet Inst
  • Genet Inst Inc, Rambam Health Care Campus

External person

Bruno Sainz

  • Univ Autonoma Madrid, Autonomous University of Madrid, CSIC - Instituto de Investigaciones Biomedicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Cientificas (CSIC), CSIC, Inst Invest Biomed Alberto Sols, Dept Bioquim
  • Univ Autonoma Madrid, CIBERER, CIBER - Centro de Investigacion Biomedica en Red, Autonomous University of Madrid, Fac Med, Ctr Invest Biomed Red Enfermedades Raras CIBERER
  • IRYCIS, Enfermedades Cron & Canc Area

External person

Marisa W. Friederich

  • Univ Colorado, University of Colorado System, University of Colorado Health Science Center, Dept Pediat, Sect Clin Genet & Metab

External person

Margaret A Chen

  • PreventionGenetics

External person

Carla Onnekink

  • Radboud University Nijmegen
  • Radboud University Nijmegen Medical Centre
  • Med Psychiat Ctr PsyToBe

External person

John Mitchell

  • McGill Univ Hlth Ctr RVH, McGill University
  • Montreal Childrens Hosp, McGill University, Div Pediat Endocrinol

External person

Rene G. Feichtinger

  • Med Univ Vienna, Medical University of Vienna, Dept Pediat Surg, Res Core Unit Pediat Biochem
  • Salzburger Landeskliniken SALK
  • PMU
  • Paracelsus Med Univ, Paracelsus Private Medical University, Dept Dermatol

External person

Elisabeth Jameson

  • Cent Manchester Univ Hosp NHS Fdn Trust, University of Manchester, St Marys Hosp, Willink Biochem Genet Unit

External person

Willem-Jan M Gerver

  • Maastricht Univ, Maastricht University, Med Ctr, Dept Pediat Cardiol

External person

Monique G. de Sain-van der Velden

  • Univ Med Ctr Utrecht, University of Utrecht, Utrecht University Medical Center, Dept Med Genet, Sect Metab Diagnost
  • Radboud University Nijmegen Medical Centre
  • Univ Med Ctr Utrecht, Utrecht University Medical Center, University of Utrecht, Ctr Mol Med, Dept Genet, Div Biomed Genet
  • Univ Med Ctr Utrecht, Utrecht University, Utrecht University Medical Center, Wilhelmina Kinderziekenhuis, Wilhelmina Childrens Hosp, Dept Metab Dis

External person

Vesna Stojanovic

  • Univ Belgrade, Sch Med, Inst Microbiol & Immunol
  • Univ Novi Sad, Fac Med, Dept Pharmacol & Toxicol
  • University of Novi Sad
  • Intens Care Unit
  • Ins Child & Youth Hlth Care Vojvodina

External person

Moacir Wajner

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, HCPA, Serv Genet Med
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Dept Bioquim, Inst Ciencias Basicas Saude

External person

Inge Cuppen

  • Univ Med Ctr Utrecht, University of Utrecht, Utrecht University Medical Center, Dept Neurol, Rudolf Magnus Inst Neurosci, Brain Ctr

External person

Esperanza Font-Montgomery

  • Childrens Hosp Wisconsin

External person

Kaustuv Bhattacharya

  • Univ Sydney, University of Sydney, Genet Metab Disorders Serv, Childrens Hosp Westmead, Sch Clin
  • Univ Sydney, University of Sydney, Sydney Childrens Hosp Network, Genet Metab Disorders Serv, Disciplines Genet Med & Child & Adolescent Hlth

External person

J. G. Langendonk

  • Erasmus MC Univ Med Ctr, Erasmus University Rotterdam, Erasmus MC Ctr Lysosomal & Metab Dis, Dept Pediat, Div Metab Dis & Genet
  • Erasmus Univ, Erasmus University Rotterdam, Erasmus Sch Econ, Econometric Inst
  • Erasmus University Rotterdam

External person

Rafael Garesse

  • Univ Autonoma Madrid, Autonomous University of Madrid, CSIC - Instituto de Investigaciones Biomedicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Cientificas (CSIC), CSIC, Inst Invest Biomed Alberto Sols, Dept Bioquim
  • Univ Autonoma Madrid, CIBERER, CIBER - Centro de Investigacion Biomedica en Red, Autonomous University of Madrid, Fac Med, Ctr Invest Biomed Red Enfermedades Raras CIBERER
  • Hosp 12 Octubre Imas12, Hospital Universitario 12 de Octubre, Inst Invest Sanit

External person

Peter Freisinger

  • Klinik Kinder & Jugendmed
  • Klinikum Steinenberg, Klin Kinder & Jugendmed Reutlingen
  • Bult Childrens Hosp

External person

Jeannette C Bleeker

  • Univ Med Ctr Utrecht, Utrecht University, Utrecht University Medical Center, Wilhelmina Kinderziekenhuis, Wilhelmina Childrens Hosp, Dept Metab Dis
  • Univ Amsterdam, Emma Children's Hospital, University of Amsterdam, Emma Childrens Hosp, Dept Metab Dis, Amsterdam UMC

External person

Megan K. Dishop

  • Univ Colorado, Children's Hospital Colorado, University of Colorado System, University of Colorado Health Science Center, Childrens Hosp Colorado, Dept Pathol

External person

Hanka Dekker

  • VKS Dutch Patient Org Metab Dis
  • Dutch Patient Assoc Inherited Metab Dis, VKS

External person

D. Margriet Ouwens

  • German Diabet Ctr, Deutsches Diabetes-Zentrum (DDZ), Inst Clin Biochem & Pathobiochem
  • Site Greifswald, DZD German Ctr Diabet Res
  • Ghent University Hospital

External person

Johannes A. Mayr

  • Med Univ Vienna, Medical University of Vienna, Dept Pediat Surg, Res Core Unit Pediat Biochem
  • Salzburger Landeskliniken SALK
  • PMU
  • Paracelsus Med Univ, Paracelsus Private Medical University, Dept Dermatol

External person

Hermine E. Veenstra-Knol

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Genet
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Mol Genet
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Div Geriatr Med, Univ Ctr Geriatr Med
  • RUMC, Dept Genet
  • Univ Groningen
  • Univ Groningen, University of Groningen
  • Univ Klinikum Dusseldorf, Heinrich Heine University Dusseldorf, Heinrich Heine University Dusseldorf Hospital, Dept Vasc Surg
  • Inst Humangenet & Anthropol
  • Heinrich Heine Univ, Heinrich Heine University Dusseldorf, Inst Human Genet
  • University of Groningen, Groningen
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Genet, Div Clin Genet

External person

Arianna Maiorana

  • Bambino Gesu Pediat Hosp, Bambino Gesu Childrens Hospital

External person

Geertje B. Liemburg

  • Univ Med Ctr Groningen, University of Groningen, Beatrix Childrens Hosp
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis

External person

Anne Daly

  • Birmingham Childrens Hosp, University of Birmingham, Dept Metab Dis
  • Birmingham Womens & Childrens Hosp, Birmingham Women's Hospital
  • Birmingham Childrens Hosp, University of Birmingham, Hepatol

External person

Panagiotis Giannopoulos

  • Universitair Medisch Centrum
  • Department of Medical Oncology and Cellular Therapy, Medical Oncology Department , Tenon Assistance Publique-Hôpitaux de Paris , Paris , France.
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Canc Res Ctr Groningen, Dept Med Oncol

External person

Agnes Rotig

  • Univ Paris, PRES University Sorbonne Paris Cite, University of Paris Diderot - Paris VII, Sorbonne Paris Cite, UMR S775
  • Imagine Inst, Dept Hematol
  • Univ Paris 05, Institut National de la Sante et de la Recherche Medicale (Inserm), University of Paris Descartes - Paris V, Universite Sorbonne Paris Cite-USPC (COMUE), INSERM, Inst Imagine, U1163
  • Univ Paris 06, EA 3974, Paris, France
  • INSERM, Institut National de la Sante et de la Recherche Medicale (Inserm), U1176
  • Paris Descartes Univ, PRES University Sorbonne Paris Cite, University of Paris Descartes - Paris V, Cochin Hosp
  • Univ Paris 05, Universite Sorbonne Paris Cite-USPC (COMUE), University of Paris Descartes - Paris V, Sorbonne Paris Cite

External person

Lut de Baere

  • Belg Org Kinderen Volwassenen Met Stofwisselingsz

External person

Mamta Vaidya

  • Barts Hlth NHS Trust, Royal London Hosp, Paediat Intens Care

External person

Katherine Gowan

  • Galilee Med Ctr, Western Galilee Hospital, Inst Human Genet
  • Univ Colorado, University of Colorado System, University of Colorado Health Science Center, Sch Med, Dept Biochem & Mol Genet

External person

Andrea Schlune

  • Univ Dusseldorf, Heinrich Heine University Dusseldorf, Univ Childrens Hosp, Fac Med, Dept Gen Pediat Neonatol & Pediat Cardiol
  • Univ Freiburg, Helmholtz Association, Univ Childrens Hosp
  • Univ Dusseldorf, Heinrich Heine University Dusseldorf, Dept Gen Pediat Pediat Cardiol & Neonatol, Expt Pediat
  • Heinrich Heine Univ, Heinrich Heine University Dusseldorf, Inst Human Genet
  • Heinrich Heine Univ, Heinrich Heine University Dusseldorf, Univ Childrens Hosp Duesseldorf, Dept Gen Pediat Neonatol & Pediat Cardiol

External person

Laura Mamblona

  • Univ Autonoma Madrid, Autonomous University of Madrid, CSIC - Instituto de Investigaciones Biomedicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Cientificas (CSIC), CSIC, Inst Invest Biomed Alberto Sols, Dept Bioquim
  • Univ Autonoma Madrid, CIBERER, CIBER - Centro de Investigacion Biomedica en Red, Autonomous University of Madrid, Fac Med, Ctr Invest Biomed Red Enfermedades Raras CIBERER
  • Hosp 12 Octubre Imas12, Hospital Universitario 12 de Octubre, Inst Invest Sanit

External person

Nerea López Maldonado

  • Asociac Espanola Enfermos Glucogenosis
  • ICS, Catalan Health Institute

External person

Peter M. van Hasselt

  • Univ Med Ctr Utrecht, University of Utrecht, Utrecht University Medical Center, Dept Metab Disorders

External person

Kieran C. Clarke

  • Univ Oxford, University of Oxford, Dept Physiol Anat & Genet

External person

F. Eyskens

  • Antwerp University Hospital

External person

Ann Saada

  • Hadassah Hebrew Univ, Hebrew University of Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res
  • Hadassah Hebrew Univ, Hebrew University of Jerusalem, Med Ctr, Dept Genet & Metab Dis

External person

Michel Hochuli

  • Univ Zurich, University of Zurich, Klin Endokrinol Diabetol & Klin Ernahrung

External person

Petra J. W. Pouwels

  • Neurosci Campus Amsterdam
  • Vrije Univ Amsterdam Med Ctr, VU University Amsterdam, MS Ctr Amsterdam, Dept Phys & Med Technol
  • Vrije Univ Amsterdam Med Ctr, Vrije Universiteit Amsterdam, VU UNIVERSITY MEDICAL CENTER, Dept Radiol & Nucl Med
  • Vrije Univ Amsterdam, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam UMC, Dept Radiol & Nucl Med
  • Vrije Univ Amsterdam, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam UMC, Dept Maxillofacial Surg & Oral Pathol

External person

Sander Kooijman

  • Med Psychiat Ctr PsyToBe
  • Depertment Endocrinol
  • Leiden Univ, Leiden University, LUCL Leiden Univ Ctr Linguist
  • Leiden University
  • Leiden Univ, Leiden University, Med Ctr, Einthoven Lab Expt Vasc Med, Dept Med,Div Nephrol

External person

Andreas Boss

  • Radboud University Nijmegen Medical Centre

External person

Caroline J. van Der Schaaf

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis

External person

Fuad Fares

  • Univ Haifa, University of Haifa, Dept Human Biol, Fac Nat Sci

External person

Renata C. Gallagher

  • Univ Colorado, University of Colorado System, University of Colorado Health Science Center, Dept Pediat, Sect Clin Genet & Metab

External person

Susan E. Waisbren

  • Harvard Univ, Harvard University, Sch Med, Childrens Hosp Boston

External person

Mark Tarnopolsky

  • Dept Lab Med Res Ctr
  • Div Neuromuscular & Neurometab Dis
  • Dept Obstet Gynaecol & Pediat
  • McMaster Univ, McMaster University, Div Nephrol
  • McMaster University.

External person

Alberto Ferriani

  • Assoc Brasileira Glicogenose ABGLICO

External person

Michelle M Corrado

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program

External person

Sara Palacios-Zambrano

  • Univ Autonoma Madrid, Autonomous University of Madrid, CSIC - Instituto de Investigaciones Biomedicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Cientificas (CSIC), CSIC, Inst Invest Biomed Alberto Sols, Dept Bioquim
  • Univ Autonoma Madrid, CIBERER, CIBER - Centro de Investigacion Biomedica en Red, Autonomous University of Madrid, Fac Med, Ctr Invest Biomed Red Enfermedades Raras CIBERER
  • Hosp 12 Octubre Imas12, Hospital Universitario 12 de Octubre, Inst Invest Sanit

External person

Stephen Bowhay

  • NHS Greater Glasgow & Clyde, University of Glasgow, Royal Hosp Sick Children

External person

Alice Dianin

  • Univ Hosp Verona, Azienda Ospedaliera Universitaria Integrata Verona, University of Verona, Reg Ctr Newborn Screening Diag & Treatment Inheri, Dept Pediat

External person

EL Murphy

  • Spitzer Science Center, 314-6 Caltech, Pasadena, CA 91125, USA

External person

Abdel A. Belaidi

  • Univ Cologne, University of Cologne, Ctr Mol Med Cologne, Dept Chem, Inst Biochem,CECAD Cologne
  • Univ Melbourne, University of Melbourne, Florey Inst Neurosci & Mental Hlth

External person

Sabine Scholl-Buergi

  • Med Univ Innsbruck, Medical University of Innsbruck, Dept Kinder & Jugendheilkunde
  • Rambam Med Ctr, Technion Israel Institute of Technology
  • Med Univ Innsbruck, Medical University of Innsbruck, Dept Pediat 1, Inherited Metab Disorders

External person

Austin A Larson

  • Univ Colorado, University of Colorado System, University of Colorado Anschutz Medical Campus, Dept Pediat, Sect Clin Genet & Metab
  • Univ Colorado Anschutz Med Campus, University of Colorado System, University of Colorado Anschutz Medical Campus, Div Nephrol & Hypertens
  • Univ Colorado, University of Colorado System, University of Colorado Anschutz Medical Campus, University of Colorado Denver, Dept Pediat, Genet Sect

External person

Frans van den Brandt

  • Radboud University Nijmegen Medical Centre

External person

Alexander J Rennings

  • Radboud University Nijmegen Medical Centre

External person

Gerard. T. Berry

  • Harvard Univ, Harvard University, Sch Med, Childrens Hosp Boston
  • Harvard Med Sch, VA Boston Healthcare System, Boston Children's Hospital, Harvard University, Boston Childrens Hosp, Div Genet & Genom

External person

Vassiliki Konstantopoulou

  • Med Univ Vienna, Medical University of Vienna, Dept Pediat
  • Med Univ Vienna, Medical University of Vienna, Dept Pediat Surg, Res Core Unit Pediat Biochem
  • Univ Vienna, University of Vienna, Univ Klin Orthopadie Med
  • Medical University of Vienna
  • Med Univ Vienna, Medical University of Vienna, Dept Pediat Surg
  • Med Univ Vienna, Medical University of Vienna, Dept Pediat & Adolescent Med

External person

Holger Prokisch

  • Tech Univ Munich, Technical University of Munich, Inst Human Genet
  • Helmholtz Zentrum Munchen, Helmholtz Association, Inst Human Genet
  • German Res Ctr Environm Hlth, Helmholtz Association, Helmholtz Zentrum Munchen, Inst Human Genet
  • Univ Hlth Serv Gottingen, Inst Human Genet
  • Tech Univ Munich, Technical University of Munich, University of Munich
  • Institute for Biological and Medical Imaging, Helmholtz Zentrum Munich
  • Gesell Schwerionenforsch GmbH, Helmholtz Association
  • Helmholtz Zentrum Munchen, Neuherberg, Germany
  • Tech Univ Munich, Technical University of Munich, Inst Human Genet, Klinikum Rechts Isar
  • German Res Ctr Environm Hlth, Helmholtz Association, Helmholtz-Center Munich - German Research Center for Environmental Health, Helmholtz Zentrum Munchen, Inst Human Genet

External person

Robert Niklas Schmitt

  • Univ Freiburg, University of Freiburg, Med Ctr, Ctr Pediat, Dept Gen Pediat Adolescent Med & Neonatol
  • MGZ Med Genet Ctr
  • MSB Med Sch Berlin, Fac Nat Sci
  • Univ Freiburg, University of Freiburg, Fak Phys

External person

Anita Boelen

  • Univ Amsterdam, University of Amsterdam, Acad Med Ctr
  • Lab. of Endocrinol. and Reproduction
  • MUMC, Dept Clin Chem
  • University of Amsterdam
  • Univ Amsterdam, University of Amsterdam, Dept Endocrinol & Metab, Acad Med Ctr
  • Univ Amsterdam, University of Amsterdam, Amsterdam UMC, Dept Endocrinol & Metab

External person

Helen Mundy

  • Evelina London Childrens Hosp GSTT, King's Health Partners, University of London, Kings College London, Kings Hlth Partners AHSC

External person

Volker Berg

  • Elbe Kliniken

External person

Giancarlo Parenti

  • Fed II Univ, Fondazione Telethon, University of Naples Federico II, Telethon Inst Genet & Med TIGEM, Dept Med & Translat Sci

External person

Pieter van der Vlies

  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Genet
  • UMCG
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Div Geriatr Med, Univ Ctr Geriatr Med
  • MUMC, Dept Clin Genet
  • Univ Groningen, University of Groningen
  • RUMC, Dept Genet
  • Univ Groningen
  • University of Groningen, Groningen
  • Univ Groningen, University of Groningen, Univ Med Ctr Groningen, Dept Genet, Div Clin Genet
  • Res & Intelligence
  • Univ Med Ctr Groningen, University of Groningen
  • HZPC Res BV

External person

Caroline P. Mescka

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, HCPA, Serv Genet Med
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Dept Bioquim, Inst Ciencias Basicas Saude

External person

Manuel Schiff

  • Robert Debre Univ Hosp, Assistance Publique Hopitaux Paris (APHP), Hopital Universitaire Robert-Debre - APHP, AP HP, Reference Ctr Inborn Errors Metab, INSEAM U1141
  • Univ Paris Diderot, University of Paris Diderot, Universite Sorbonne Paris Cite-USPC (ComUE), Sorbonne Paris Cite, IUT Paris Diderot

External person

Amanda C. M. Pronk

  • Leiden Univ, Leiden University, Med Ctr, Einthoven Lab Expt Vasc Med, Dept Med,Div Nephrol

External person

Rossella Parini

  • Azienda Osped San Gerardo, Fdn MBBM, Dept Pediat, Unita Operat Semplice Malattie Metabol Rare
  • San Gerardo Univ Hosp, Dept Pediat, Rare Metab Disorders Unit

External person

Nadine Damouny-Naoum

  • Rambam Hlth Care Campus, Rambam Health Care Campus, Genet Inst
  • Univ Haifa, University of Haifa, Dept Human Biol, Fac Nat Sci

External person

Daniela Melis

  • UCL, University College London, University of London, Ctr Cardiovasc Genet, Inst Cardiovasc Res
  • Univ Naples Federico II, University of Naples Federico II, Dipartimento Pediat

External person

Michel C Tchan

  • Univ Sydney, University of Sydney, Westmead Newborn Intens Care Unit, Westmead Hosp

External person

Corinne Gemperle-Britschgi

  • Univ Childrens Hosp, Clin Chem & Biochem & Childrens Res Ctr
  • Univ Childrens Hosp Zurich, Childrens Res Ctr
  • Univ Childrens Hosp Zurich, Div Metab & Childrens Res Ctr

External person

Tzipora C. Falik-Zaccai

  • Bar Ilan Univ, Bar Ilan University, Azrieli Fac Med Galilee

External person

John Christodoulou

  • Univ Sydney, Children's Medical Research Institute - Australia, University of Sydney, Western Sydney Genet Program, Childrens Hosp Westmead
  • Univ Sydney, University of Sydney, Discipline Paediat & Child Hlth
  • Univ Sydney, University of Sydney, Discipline Genet Med
  • Childrens Hosp Westmead, University of Sydney, Kids Res Inst, Genet Metab Disorders Res Unit
  • Univ Sydney, University of Sydney, Sydney Med Sch, Discipline Child & Adolescent Hlth
  • Murdoch Childrens Res Inst, Murdoch Children's Research Institute, Neurodev Genom Res Grp
  • Univ Melbourne, University of Melbourne, Melbourne Med Sch, Dept Paediat
  • Univ Melbourne, Murdoch Children's Research Institute, University of Melbourne, Dept Paediat, Murdoch Childrens Res Inst
  • Univ Melbourne, Royal Children's Hospital Melbourne, University of Melbourne, Royal Childrens Hosp, Dept Pediat
  • Royal Childrens Hosp, Murdoch Children's Research Institute, Royal Children's Hospital Melbourne, Murdoch Childrens Res Inst, Brain & Mitochondrial Res Grp

External person

Toshiyuki Fukao

  • Juntendo Univ, Grad Sch Med
  • Toyohashi Municipal Hosp, Dept Pediat
  • Gifu Univ, Gifu University, Grad Sch Med, Dept Neurobiol
  • Div Clin Genet
  • Gifu Univ Hosp

External person

Antal Nemeth

  • Univ Oxford, University of Oxford, Nuffield Dept Clin Neurosci, Oxford Ctr Funct MRI Brain
  • Oxford Univ Hosp NHS Fdn Trust, Oxford University Hospitals NHS Foundation Trust, Oxford Ctr Genom Med
  • Karolinska University Hospital
  • Karolinska Inst, Karolinska Institutet, CLINTEC, Div Surg

External person

Micol Gilberti

  • Univ Parma, University of Parma, Dept Chem Life Sci & Environm Sustainabil

External person

Robert Kopajtich

  • Univ Hlth Serv Gottingen, Inst Human Genet
  • Institute for Biological and Medical Imaging, Helmholtz Zentrum Munich
  • Gesell Schwerionenforsch GmbH, Helmholtz Association
  • Helmholtz Zentrum Munchen, Neuherberg, Germany
  • Tech Univ Munich, Technical University of Munich, Inst Human Genet, Klinikum Rechts Isar
  • German Res Ctr Environm Hlth, Helmholtz Association, Helmholtz-Center Munich - German Research Center for Environmental Health, Helmholtz Zentrum Munchen, Inst Human Genet

External person

Steven F. Dobrowolski

  • Univ Pittsburgh, Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Pittsburgh, Dept Mol Genet & Biochem

External person

Claudia Donnini

  • Univ Parma, University of Parma, Dept Chem Life Sci & Environm Sustainabil

External person

Gajja S. Salomons

  • Vrije Univ Amsterdam, VU University Amsterdam, Med Ctr, Metab Unit, Dept Clin Chem
  • MUMC, Dept Clin Chem
  • Univ Cambridge, University of Cambridge, Sch Clin Med, Med Res Council Epidemiol Unit, Inst Metab Sci
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Univ Med Ctr
  • Vrije Universiteit Amsterdam, de Boelelaan
  • Univ Cambridge, University of Cambridge, Addenbrookes Hosp, Sch Clin Med, Inst Metab Sci,MRC,Epidemiol Unit
  • Vrije Univ Amsterdam, Vrije Universiteit Amsterdam, Neurosci Campus Amsterdam
  • LACDR, Vrije Universiteit Amsterdam
  • Vrije Univ Amsterdam, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam Neurosci Amsterdam Gastroenterol & Meta, Dept Clin Chem,Metab Unit

External person

Amelie Sophia Lotz-Havla

  • Univ Munich, University of Munich, Children Hosp, Dr Haunersches Kinderspital, Dept Ped Hematol & Oncol
  • Dr von Hauner Childrens Hosp, University of Munich, Dept Paediat Gastroenterol
  • Univ Observ Munich, University of Munich
  • Tech Univ Munich, Technical University of Munich, University of Munich

External person

M. Estela Rubio Gozalbo

  • Maastricht Univ, Maastricht University, Ctr Med, Dept Pediat
  • AMC, Dept ENT & Pediat
  • Med Psychiat Ctr PsyToBe
  • Maastricht Univ, Maastricht University, Maastricht Univ Off
  • Maastricht University
  • Maastricht Univ, Maastricht University, Lab Genet Metab Dis

External person

Lonneke de Boer

  • Erasmus MC Univ Med Ctr, Erasmus University Rotterdam, Erasmus MC Ctr Lysosomal & Metab Dis, Dept Pediat, Div Metab Dis & Genet
  • AMC, Dept ENT & Pediat
  • Radboud University Nijmegen Medical Centre
  • Radboud University Nijmegen

External person

Mareike Muhlmeister

  • Med Psychiat Ctr PsyToBe
  • Radboud University Nijmegen Medical Centre
  • AMC, Dept ENT & Pediat
  • Radboud University Nijmegen

External person

Anibh Martin Das

  • Hannover Med Sch, Hannover Medical School, Ctr Pediat Surg Hannover
  • Univ Freiburg, Helmholtz Association, Univ Childrens Hosp
  • Hannover Medical School
  • Hannover Med Sch, Hannover Medical School, Dept Paediat Surg
  • Hannover Med Sch, Hannover Medical School, Clin Paediat Kidney Liver & Metab Dis

External person

Eva Morava

  • Tulane Hayward Genet Ctr, Tulane University
  • Queen Paola Childrens Hosp, Dept Pediat Nephrol
  • Universitair Ziekenhuis Leuven
  • KU Leuven
  • University Hospital Leuven
  • Department of Human Genetics
  • Tulane University Medical School
  • Department of Pediatrics
  • Mayo Clin, Mayo Clinic, Windland Smith Rice Sudden Death Genom Lab, Dept Pediat, Div Pediat Cardiol
  • Mayo Clin, Mayo Clinic, Dept Clin Genom, Ctr Individualized Med
  • Newcastle Univ, Newcastle University - UK, Int Ctr Life, Inst Genet Med

External person

Miguel A. Fernandez-Moreno

  • Univ Autonoma Madrid, Autonomous University of Madrid, CSIC - Instituto de Investigaciones Biomedicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Cientificas (CSIC), CSIC, Inst Invest Biomed Alberto Sols, Dept Bioquim
  • Univ Autonoma Madrid, CIBERER, CIBER - Centro de Investigacion Biomedica en Red, Autonomous University of Madrid, Fac Med, Ctr Invest Biomed Red Enfermedades Raras CIBERER
  • Hosp 12 Octubre Imas12, Hospital Universitario 12 de Octubre, Inst Invest Sanit

External person

Francesca Moore

  • Childrens Hosp Westmead, University of Sydney, Biochem Genet Lab

External person

Alina Kurolap

  • Rambam Hlth Care Campus, Rambam Health Care Campus, Genet Inst
  • Technion Israel Inst Technol, Technion Israel Institute of Technology, Ruth & Bruce Rappaport Fac Med

External person

Maaike M. C. de Vries

  • Radboud University Nijmegen Medical Centre

External person

Andrew Morris

  • Univ Oxford, University of Oxford, Welcome Trust Ctr Human Genet
  • Manchester Acad Hlth Sci Ctr, University of Manchester, Dept Med Genet
  • Inst Translat Med Cellular & Mol Physiol
  • Univ Liverpool, University of Liverpool
  • Cent Manchester Univ Hosp NHS Fdn Trust, University of Manchester, Manchester Acad Hlth Sci Ctr, St Marys Hosp, Manchester Ctr Genom Med
  • Univ Manchester, University of Manchester, Manchester Acad Hlth Sci Ctr, Sch Biol Sci, Div Evolut & Genom Sci

External person

Rebecca K. Halligan

  • Women & Childrens Hosp Adelaide, SA Pathology, SA Pathol

External person

J. Jaeken

  • Universitair Ziekenhuis Leuven

External person

Clair Habib

  • Bnai Zion Med Ctr, Bnai Zion Medical Center, Dept Pediat

External person

Camila S. Vanzin

  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, HCPA, Serv Genet Med
  • Univ Fed Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Dept Bioquim, Inst Ciencias Basicas Saude

External person

Yaniv Zohar

  • Rambam Hlth Care Campus, Rambam Health Care Campus, Inst Pathol

External person

Hanka Venselaar

  • Radboud University Nijmegen Medical Centre
  • Med Psychiat Ctr PsyToBe
  • Radboud University Nijmegen

External person

Marcus Landgren

  • Scandinavian Assoc Glycogen Storage Dis

External person

Jason McMillan

  • Assoc Glycogen Storage Dis

External person

Karl Otfried Schwab

  • Univ Freiburg, University of Freiburg, Med Ctr, Ctr Pediat, Dept Gen Pediat Adolescent Med & Neonatol
  • MGZ Med Genet Ctr
  • MSB Med Sch Berlin, Fac Nat Sci
  • Univ Freiburg, University of Freiburg, Fak Phys
  • Univ Childrens Hosp, University of Freiburg, Dept Gen Pediat & Adolescent Med

External person

Ayalla Fedida

  • Bar Ilan Univ, Bar Ilan University, Azrieli Fac Med Galilee

External person

Kaz Knight

  • Univ Colorado, University of Colorado System, University of Colorado Health Science Center, Dept Pediat, Sect Clin Genet & Metab

External person

W-Ludo van der Pol

  • Univ Med Ctr Utrecht, University of Utrecht, Utrecht University Medical Center, Brain Ctr Rudolf Magnus, Dept Neurol & Neurosurg
  • Univ Utrecht, Utrecht University, Utrecht University Medical Center, Univ Med Ctr Utrecht, Expertise Ctr Struct Biol
  • Univ Med Ctr Utrecht, University of Utrecht, Utrecht University Medical Center, Dept Neurol, Rudolf Magnus Inst Neurosci, Brain Ctr
  • Univ Med Ctr Utrecht, Utrecht University, Utrecht University Medical Center, UMC Utrecht Brain Ctr, Dept Neurol & Neurosurg

External person

Theresa B Flanagan

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program

External person

Catherine E. Correia

  • Univ Florida, Florida State University System, University of Florida, Coll Med, Div Pediat Endocrinol, Glycogen Storage Dis Program

External person

Kathryn C. Chatfield

  • Univ Colorado, Children's Hospital Colorado, University of Colorado Health Science Center, University of Colorado System, Childrens Hosp Colorado, Sect Pediat Cardiol, Dept Pediat

External person