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Contributors
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S. Faisal Ahmed, MD, FRCPCH

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Samson Gemmell Chair of Child Health

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Consultant in Paediatric Endocrinology

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Royal Hospital for Children

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Glasgow School of Medicine

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University of Glasgow

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Glasgow, United Kingdom

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Brage Storstein Andresen, PhD, FRCPath

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Professor of Human Molecular Genetics

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Department of Biochemistry and Molecular Biology

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University of Southern Denmark

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Odense, Denmark

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Sudha Anupindi, MD

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Department of Radiology

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Children's Hospital of Philadelphia

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Associate Professor of Radiology

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Perelman School of Medicine at the University of Pennsylvania

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Philadelphia, Pennsylvania, USA

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Jesús Argente, MD, PhD

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Full Professor and Chairman, Department of Pediatrics

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Universidad Autónoma de Madrid

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Head, Department of Pediatrics & Pediatric Endocrinology

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Hospital Infantil Universitario Niño Jesús

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Instituto de Investigación La Princesa

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Director, National Program of Childhood Obesity

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Instituto de Salud Carlos III

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Madrid, Spain

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Philippe F. Backeljauw, MD

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Professor of Pediatrics

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Director, Pediatric Endocrinology Fellowship Program

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Cincinnati Children's Hospital Medical Center

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Cincinnati, Ohio, USA

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Bruce A. Barshop, MD, PhD

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Professor of Pediatrics

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Biochemical Genetics Program

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University of California, San Diego

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San Diego, California, USA

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Andrew J. Bauer, MD

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Director, The Thyroid Center

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Division of Endocrinology and Diabetes

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Children's Hospital of Philadelphia

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Associate Professor of Pediatrics

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Perelman School of Medicine at the University of Pennsylvania

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Philadelphia, Pennsylvania, USA

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++

Michael Beck, MD

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Professor Emeritus

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Institute of Human Genetics

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University of Mainz

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Mainz, Germany

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++

Jirair K. Bedoyan, MD, PhD, FACMG

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Clinical and Biochemical Geneticist

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Assistant Professor, Departments of Genetics and Genome Sciences and Pediatrics

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Associate Director, Center for Inherited Disorders of Energy Metabolism (CIDEM)

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University Hospitals Cleveland Medical Center

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Case Western Reserve University

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Cleveland, Ohio, USA

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Melena Bellin, MD

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University of Minnesota Medical Center

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Schulze Diabetes Institute

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Associate Professor Pediatric Endocrinology

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Director of Research, Islet Autotransplant Program

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Minneapolis, Minnesota, USA

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Michael J. Bennett, PhD, FRCPath, FACB, DABCC

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Professor of Pathology and Laboratory Medicine

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Perelman School of Medicine at the University of Pennsylvania

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Evelyn Willing Bromley Endowed Chair in Clinical Laboratories and Pathology

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Chief, Division of Laboratory Medicine

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Director, Clinical Chemistry and Metabolic Disease Laboratories

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Children's Hospital of Philadelphia

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Philadelphia, Pennsylvania, USA

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Ignacio Bergadá, MD

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Chief, División de Endocrinología

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Assistant Director, Centro de Investigaciones Endocrinológicas “Dr. César Bergadá”

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CONICET-FEI-División de Endocrinología

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Hospital de Niños Ricardo Gutiérrez

++

Buenos Aires, Argentina

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++

Gerard T. Berry, MD

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Director, Metabolism Program

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Boston Children's Hospital

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Professor of Pediatrics

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Harvard Medical School

++

Boston, Massachusetts, USA

++

 

++

Bala Bhagavath, MD

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Associate Professor of Obstetrics and Gynecology

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Division of Reproductive Endocrinology and Infertility

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Director, Scibetta Fellowship in Minimally Invasive Gynecologic Surgery

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Director, Third Party Reproduction

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Co-Director, URMC Fibroid Center

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University of Rochester Medical Center

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Rochester, New York, USA

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++

Ingemar Björkhem, MD, PhD

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Professor of Clinical Chemistry

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Division of Clinical Chemistry

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Department of Laboratory Medicine

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Karolinska Institutet

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Karolinska University Hospital Huddinge

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Stockholm, Sweden

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++

Nenad Blau, PhD

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Senior Consultant in Biochemical Genetics

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Professor of Clinical Biochemistry

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Dietmar-Hopp Metabolic Center

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University Children's Hospital

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Heidelberg, Germany

++

 

++

Henk J. Blom, PhD

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Professor Biochemistry of Inherited Metabolic Diseases

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Head of Laboratory/Clinical Biochemical Geneticist

++

Laboratory of Clinical Biochemistry and Metabolism

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Department of General Pediatrics, Adolescent Medicine and Neonatology

++

University Medical Centre Freiburg

++

Freiburg, Germany

++

 

++

Rubén Bonilla-Guerrero, MD, FACMG, FACB, CGMBS

++

Medical Director, Medical Affairs, Genetics

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Associate Medical Director, Genetics

++

Quest Diagnostics, Inc.

++

Nichols Institute

++

San Juan Capistrano, California, USA

++

 

++

Olivier Braissant, PhD

++

Service of Biomedicine

++

Department of Laboratories

++

University Hospital of Lausanne

++

Lausanne, Switzerland

++

 

++

Peter Burgard, PhD

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Consultant of Pediatric Psychology

++

Department of General Pediatrics

++

Heidelberg University Hospital

++

Heidelberg, Germany

++

 

++

Alberto Burlina, MD

++

Division of Inherited Metabolic Diseases Reference Centre

++

Expanded Newborn Screening Department of Women's and Child's Health

++

University Hospital

++

Padova, Italy

++

 

++

Amy R.U.L. Calhoun, MD

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Clinical Assistant Professor

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Stead Family Department of Pediatrics

++

Division of Medical Genetics

++

Medical Consultant to the Iowa Newborn Screening Program

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University of Iowa Hospitals and Clinics

++

Iowa City, Iowa, USA

++

 

++

Audrey Campbell, MD, MHSc, FRCPC (Public Health & Preventive Medicine)

++

Clinical Assistant Professor

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Department of Family Practice

++

Faculty of Medicine

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University of British Columbia

++

Vancouver, British Columbia, Canada

++

 

++

Bruce R. Carr, MD

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Holder, Paul C. MacDonald Distinguished Chair in Obstetrics and Gynecology

++

Professor of Obstetrics and Gynecology

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Director, Division of Reproductive Endocrinology and Infertility

++

University of Texas Southwestern Medical Center

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Dallas, Texas, USA

++

 

++

Anupam Chakrapani, MD, FRCPCH

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Consultant in Metabolic Medicine

++

Great Ormond Street Hospital NHS Foundation Trust

++

London, United Kingdom

++

 

++

Jean-Pierre Chanoine, MD, Agrégé de l'Enseignement Supérieur, FRCPC (Academic)

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Clinical Professor

++

Endocrinology and Diabetes Unit

++

British Columbia Children's Hospital and University of British Columbia

++

Vancouver, British Columbia, Canada

++

 

++

Evangelia Charmandari, MD, MSc, PhD, MRCP(UK), CCST(UK)

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Professor of Pediatric and Adolescent Endocrinology

++

Division of Endocrinology, Metabolism and Diabetes

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First Department of Pediatrics, University of Athens Medical School

++

Aghia Sophia Children's Hospital

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Division of Endocrinology and Metabolism

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Clinical Research Center

++

Biomedical Research Foundation of the Academy of Athens

++

Athens, Greece

++

 

++

Timothy Cheetham, BSc, MB ChB, MRCP, MRCPCH, MD

++

Senior Lecturer in Pediatric Endocrinology

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School of Clinical Medical Sciences (Child Health)

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Sir James Spence Institute of Child Health

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Royal Victoria Infirmary

++

Newcastle Upon Tyne, United Kingdom

++

 

++

George P. Chrousos, MD, MACP, MACE, FRCP(London)

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Professor and Chairman

++

First Department of Pediatrics

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University of Athens Medical School

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Aghia Sofia Children's Hospital

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Athens, Greece

++

 

++

Bruce H. Cohen, MD

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Professor of Pediatrics, Northeast Ohio Medical University

++

Department of Pediatrics

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Director, NeuroDevelopmental Science Center

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Children's Hospital Medical Center of Akron

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Akron, Ohio, USA

++

 

++

Gerard S. Conway, MD, FRCP

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Professor of Reproductive Endocrinology

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Institute for Women's Health

++

University College London

++

London, United Kingdom

++

 

++

Martine Cools, MD, PhD

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Professor Consultant in Paediatric Endocrinology

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Senior Clinical Investigator

++

Flanders Research Foundation

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Queen Elisabeth Children's Hospital

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Ghent University Hospital

++

University of Ghent

++

Ghent, Belgium

++

 

++

Tina M. Cowan, PhD, FACMG

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Associate Professor of Pathology and Pediatrics

++

Director, Stanford Biochemical Genetics Laboratory

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Stanford University Medical Center

++

Stanford, California, USA

++

 

++

Melanie Cree-Green, MD, PhD

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Assistant Professor, Pediatric Endocrinology

++

Center for Women's Health Research

++

University of Colorado

++

Aurora, Colorado, USA

++

 

++

Mehul Dattani, MD, FRCP, FRCPCH

++

Professor of Paediatric Endocrinology

++

Head of Section of Genetics and Epigenetics in Health and Disease

++

Genetics and Genomic Medicine Programme

++

UCL Great Ormond Street Institute of Child Health

++

Consultant and Head of Clinical Service in Paediatric Endocrinology

++

Great Ormond Street Hospital for Children

++

Consultant in Adolescent Endocrinology

++

UCL Hospitals

++

London, United Kingdom

++

 

++

Leo Dunkel, MD, PhD

++

Professor of Paediatric Endocrinology and Metabolism

++

Honorary Consultant in Paediatric Endocrinology

++

Centre for Endocrinology

++

William Harvey Research Institute

++

Barts and The London School of Medicine and Dentistry

++

London, United Kingdom

++

 

++

Gösta Eggertsen, MD, PhD

++

Professor of Clinical Chemistry

++

Division of Clinical Chemistry

++

Department of Laboratory Medicine

++

Karolinska Institutet

++

Karolinska University Hospital Huddinge

++

Stockholm, Sweden

++

 

++

Bjorn Fischler, MD, PhD

++

Associate Professor of Pediatrics

++

Department of Pediatrics

++

Karolinska University Hospital and CLINTEC Karolinska Institutet

++

Stockholm, Sweden

++

 

++

Gregory Forlenza, MD

++

Assistant Professor of Pediatrics

++

Barbara Davis Center for Childhood Diabetes

++

Pediatric Endocrinology

++

University of Colorado Denver

++

Aurora, Colorado, USA

++

 

++

Brian Fowler, PhD

++

Former Head of Labs

++

Paediatrics

++

University Children's Hospital Basel

++

Basel, Switzerland

++

 

++

Aaron Friedman, MD

++

Professor of Pediatrics, Emeritus

++

University of Minnesota Medical School

++

Minneapolis, Minnesota, USA

++

 

++

Brigitte I. Frohnert, MD, PhD, FAAP

++

Assistant Professor of Pediatrics

++

Department of Pediatric Endocrinology

++

Barbara Davis Center for Diabetes

++

University of Colorado

++

Aurora, Colorado, USA

++

 

++

Toshiyuki Fukao, MD, PhD

++

Professor of Pediatrics

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Graduate School of Medicine

++

Gifu University

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Gifu, Japan

++

 

++

K. Michael Gibson, PhD, FACMG

++

Allen I. White Professor and Chair

++

Experimental and Systems Pharmacology (ESP)

++

WSU College of Pharmacy

++

Spokane, Washington, USA

++

 

++

William T. Gibson, MD, PhD (Cantab), FRCPC, FCCMG

++

Associate Professor, Department of Medical Genetics

++

University of British Columbia

++

Senior Clinician Scientist

++

British Columbia Children's Hospital

++

Vancouver, British Columbia, Canada

++

 

++

Roberto Giugliani, MD, PhD

++

Professor, Department of Genetics

++

Universidade Federal do Rio Grande do Sul

++

Chief, Medical Genetics Service

++

Hospital de Clínicas de Porto Alegre

++

Porto Alegre, Brazil

++

 

++

Gregory A. Grabowski, MD

++

Professor Emeritus

++

University of Cincinnati College of Medicine and Division of Human Genetics

++

Cincinnati Children's Hospital Medical Center

++

Cincinnati, Ohio, USA

++

 

++

Stefan Grebe, MD, PhD

++

Professor of Laboratory Medicine and Pathology

++

Mayo College of Medicine

++

Consultant, Department of Laboratory Medicine and Pathology

++

Mayo Clinic

++

Rochester, Minnesota, USA

++

 

++

Dorothea Haas, MD

++

Adjunct Associate Professor

++

Department of General Pediatrics

++

Division of Neuropediatrics and Metabolic Medicine

++

University Children's Hospital

++

Heidelberg, Germany

++

 

++

Johannes Häberle, MD

++

Assistant Professor, Senior Lecturer

++

Division of Metabolism

++

University Children's Hospital

++

Zürich Eleonore Foundation

++

Zürich, Switzerland

++

 

++

Cary O. Harding, MD

++

Professor of Molecular and Medical Genetics

++

Professor of Pediatrics

++

Oregon Health & Science University

++

Portland, Oregon, USA

++

 

++

Gail E. Herman MD, PhD

++

Professor, Institute for Genomic Medicine

++

The Research Institute at Nationwide Children's Hospital

++

Department of Pediatrics

++

The Ohio State University

++

Columbus, Ohio, USA

++

 

++

Nastassja Himmelreich, PhD

++

Department of Paediatrics

++

Center for Child and Adolescent Medicine

++

University of Heidelberg

++

Heidelberg, Germany

++

 

++

Peter C. Hindmarsh, BSc, MD, FRCP, FRCPCH

++

Professor of Paediatric Endocrinology

++

Divisional Clinical Director for Paediatrics, Adolescents and Young People at UCLH

++

Developmental Endocrinology Research Group

++

University College London

++

Institute of Child Health

++

London, United Kingdom

++

 

++

Victor Ho-Fung, MD

++

Pediatric Radiologist

++

Children's Hospital of Philadelphia

++

Assistant Professor of Radiology

++

Perelman School of Medicine at the University of Pennsylvania

++

Philadelphia, Pennsylvania, USA

++

 

++

Georg F. Hoffmann, MD

++

Professor and Chair

++

University Children's Hospital

++

Ruprecht-Karls-University

++

Heidelberg, Germany

++

 

++

Stephen G. Kaler, MD

++

Senior Investigator and Head, Section on Translational Neuroscience

++

Molecular Medicine Program, NICHD

++

Porter Neuroscience Research Center II

++

National Institutes of Health

++

Bethesda, Maryland, USA

++

 

++

Andrea Kelly, MD, MSCE

++

Attending Physician

++

Children's Hospital of Philadelphia

++

Associate Professor of Pediatrics

++

Perelman School of Medicine at the University of Pennsylvania

++

Philadelphia, Pennsylvania, USA

++

 

++

Stephen F. Kemp, MD, PhD

++

Professor of Pediatrics and Medical Humanities

++

Division of Pediatric Endocrinology

++

University of Arkansas for Medical Sciences

++

Arkansas Children's Hospital

++

Little Rock, Arkansas, USA

++

 

++

Douglas S. Kerr, MD, PhD

++

Emeritus Professor of Pediatrics, Biochemistry, Nutrition, and Pathology

++

Case Western Reserve University School of Medicine

++

Former Director

++

Center of Inherited Disorders of Energy Metabolism

++

University Hospitals Case Medical Center

++

Cleveland, Ohio, USA

++

 

++

Karen M. Kloke, MS, MT (ASCP)

++

Department of Laboratory Medicine and Pathology

++

Mayo Clinic and Foundation

++

Rochester, Minnesota, USA

++

 

++

David M. Koeller, MD

++

Professor of Molecular and Medical Genetics

++

Professor of Pediatrics

++

Oregon Health & Science University

++

Portland, Oregon, USA

++

 

++

Victor N. Konji, PhD

++

Pediatric Bone Health Research Associate

++

Pediatric Bone Health Clinical and Research Programs

++

Children's Hospital of Eastern Ontario Research Institute

++

Ottawa, Ontario, Canada

++

 

++

Christian Körner, PhD

++

Professor of Biochemical Genetics

++

University Children's Hospital

++

Ruprecht-Karls-University

++

Heidelberg, Germany

++

 

++

Eleni Magdalini Kyritsi, MD, PhD Candidate

++

National and Kapodestrian University of Athens

++

Clinical Resident in Endocrinology

++

Division of Endocrinology, Metabolism and Diabetes

++

First Department of Pediatrics

++

University of Athens Medical School

++

Aghia Sophia Children's Hospital

++

Athens, Greece

++

 

++

Peter A. Lee, MD, PhD

++

Professor of Pediatrics

++

Penn State College of Medicine

++

The Milton S. Hershey Medical Center

++

Hershey, Pennsylvania, USA

++

 

++

Michael A. Levine, MD

++

Professor of Pediatrics

++

Chief, Division of Endocrinology and Diabetes Medical Director of the Center for Bone Health

++

Children's Hospital of Philadelphia

++

Perelman School of Medicine at the University of Pennsylvania

++

Philadelphia, Pennsylvania, USA

++

 

++

Harvey L. Levy, MD

++

Professor of Pediatrics

++

Harvard Medical School

++

Boston, Massachusetts, USA

++

 

++

Nicola Longo, MD, PhD

++

Professor and Chief of Medical Genetics/Pediatrics

++

University of Utah

++

Salt Lake City, Utah, USA

++

 

++

Pascal de Lonlay, MD, PhD

++

Centre de Reference des Maladies Hereditaries du Metabolisme de l'Enfant et l'Adulte

++

Hopital Necker-Enfants Malades, AP-HP

++

University Paris Descartes

++

Paris, France

++

 

++

Xiaoping Luo, MD, PhD

++

Professor of Pediatrics

++

Tongji Medical College

++

Huazhong University of Science and Technology

++

Wuhan, P.R. China

++

 

++

Jinhui Ma, PhD

++

Assistant Professor

++

School of Epidemiology, Public Health and Preventive Medicine

++

University of Ottawa

++

Scientist

++

Children's Hospital of Eastern Ontario Research Institute

++

Ottawa, Ontario, Canada

++

 

++

Dietrich Matern, MD, PhD, FACMG

++

Professor of Laboratory Medicine, Medical Genetics, and Pediatrics

++

Chair, Division of Laboratory Genetics

++

Co-Director, Biochemical Genetics Laboratory

++

Mayo Clinic College of Medicine

++

Rochester, Minnesota, USA

++

 

++

Ertan Mayatepek, MD

++

Professor and Chair

++

Department of General Pediatrics, Neonatology and Pediatric Cardiology

++

University Children's Hospital

++

Dusseldorf, Germany

++

 

++

Lillian R. Meacham, MD

++

Professor of Pediatrics

++

Division of Pediatric Endocrinology

++

Medical Director, Cancer Survivor Program

++

Kathelen V. Amos Children's Chair for Cancer Survivorship

++

Aflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta

++

Emory University School of Medicine

++

Atlanta, Georgia, USA

++

 

++

Bradley S. Miller, MD, PhD

++

Associate Professor

++

Department of Pediatric Endocrinology

++

University of Minnesota Masonic Children's Hospital

++

Minneapolis, Minnesota, USA

++

 

++

Chantal F. Morel, MD, FRCPC, FCCMG

++

Clinical and Metabolic Geneticist

++

Assistant Professor, Department of Medicine

++

University of Toronto

++

University Health Network and Mount Sinai Hospital

++

Toronto, Ontario, Canada

++

 

++

Andrew A.M. Morris, BM, BCh, PhD, FRCPCH

++

Consultant in Paediatric Metabolic Medicine

++

Central Manchester University Hospitals and Institute of Human Development

++

University of Manchester

++

Manchester, United Kingdom

++

 

++

Craig F. Munns, MD

++

Associate Professor

++

Department of Endocrinology and Diabetes

++

University of Sydney

++

Children's Hospital at Westmead

++

Sydney, Australia

++

 

++

Alessandro Mussa, MD, PhD

++

Department of Public Health and Pediatrics

++

University of Torino

++

Neonatal Intensive Care Unit and Neonatology

++

Department of Obstetrics and Gynecology

++

S. Anna Hospital

++

Città della Scienza e della Salute

++

Torino, Italy

++

 

++

William L. Nyhan, MD, PhD

++

Distinguished Professor of Pediatrics

++

Department of Pediatrics

++

University of California San Diego

++

La Jolla, California, USA

++

 

++

Karel Pacak, MD, PhD, DSc, FACE

++

Senior Investigator

++

Chief, Section on Medical Neuroendocrinology

++

Head, Developmental Endocrine Oncology and Genetics Affinity Group

++

Eunice Kennedy Shriver National Institute of Child Health and Human Development

++

National Institutes of Health

++

Bethesda, Maryland, USA

++

 

++

Darius A. Paduch, MD, PhD

++

Associate Professor of Urology and Reproductive Medicine

++

Associate Research Director, Male Infertility Fellowship

++

Assistant Laboratory Director, Male Infertility Genetics Laboratory

++

Director of Sexual Health & Medicine

++

Department of Urology

++

Weill Cornell Medical College

++

New York, New York, USA

++

 

++

Marzia Pasquali, PhD, FACMG

++

Professor of Pathology

++

University of Utah School of Medicine

++

Medical Director, Biochemical Genetics and Supplemental Newborn Screening

++

ARUP Laboratories

++

Salt Lake City, Utah, USA

++

 

++

Briana C. Patterson, MD, MS

++

Assistant Professor of Pediatrics

++

Division of Pediatric Endocrinology

++

Aflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta

++

Emory University School of Medicine

++

Atlanta, Georgia, USA

++

 

++

Anna Petryk, MD

++

Professor

++

Division of Pediatric Endocrinology

++

Department of Pediatrics

++

University of Minnesota Masonic Children's Hospital

++

Minneapolis, Minnesota, USA

++

 

++

Michel Polak, MD, PhD

++

Pediatric Endocrinology Gynecology and Diabetology

++

Université Paris Descartes, INSERM U1016, IMAGINE Institute

++

Centre de référence des Maladies Endocriniennes Rares de la Croissance

++

Hôpital Universitaire Necker Enfants Malades

++

Paris, France

++

 

++

Lynda E. Polgreen, MD, MS

++

Assistant Professor of Pediatrics

++

David Geffen School of Medicine—UCLA

++

Division of Pediatric Endocrinology

++

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

++

Torrance, California, USA

++

 

++

Constantin Polychronakos, MD, FRCPC, FRSC

++

Paediatric Endocrinologist

++

Professor, Paediatrics and Human Genetics

++

Leader, Child Health and Human Development Programme

++

McGill University Health Centre Research Institute

++

Editor, Journal of Medical Genetics

++

Montréal, Québec, Canada

++

 

++

Francesco Porta, MD, PhD

++

Department of Pediatrics

++

University of Torino

++

Torino, Italy

++

 

++

Charmian A. Quigley, MBBS, FRACP

++

Pediatric Endocrinologist

++

Sydney, Australia

++

 

++

Sandeep Raha, PhD

++

Associate Professor

++

Department of Pediatrics

++

McMaster University Medical Center

++

Hamilton, Ontario, Canada

++

 

++

Shamima Rahman, FRCP, FRCPCH, PhD

++

Professor of Paediatric Metabolic Medicine

++

UCL Great Ormond Street Institute of Child Health

++

London, United Kingdom

++

 

++

Michael B. Ranke, MD, PhD

++

Professor Emeritus

++

Division of Pediatric Endocrinology

++

University Children's Hospital

++

Tübingen, Germany

++

 

++

Samuel Refetoff, MD

++

Professor Emeritus of Medicine and Pediatrics

++

University of Chicago Medicine

++

Chicago, Illinois, USA

++

 

++

William G. Reiner, MD

++

Professor of Pediatric Urology and Child and Adolescent Psychiatry (Retired)

++

University of Oklahoma Health Sciences Center

++

Oklahoma City, Oklahoma, USA

++

 

++

Rodolfo A. Rey, MD, PhD

++

Director, Centro de Investigaciones Endocrinológicas “Dr. César Bergadá”

++

CONICET-FEI—División de Endocrinología

++

Hospital de Niños R. Gutiérrez

++

Associate Professor, Departamento de Histología, Biología Celular, Embriología y Genética

++

Facultad de Medicina

++

Universidad de Buenos Aires

++

Buenos Aires, Argentina

++

 

++

William B. Rizzo, MD

++

Professor

++

Division of Inherited Metabolic Diseases

++

Department of Pediatrics

++

University of Nebraska College of Medicine

++

Omaha, Nebraska, USA

++

 

++

Gary L. Robertson, MD

++

Emeritus Professor of Medicine

++

Northwestern University School of Medicine

++

Chicago, Illinois, USA

++

 

++

David S. Rosenblatt, MD

++

Holder, Dodd Q. Chu and Family Chair in Medical Genetics

++

Professor, Departments of Human Genetics, Medicine, Pediatrics, and Biology

++

McGill University

++

Montreal, Quebec, Canada

++

 

++

Arlan L. Rosenbloom, MD

++

Adjunct Distinguished Service Prof. Emeritus

++

Division of Endocrinology

++

Department of Pediatrics

++

University of Florida College of Medicine

++

Gainesville, Florida, USA

++

 

++

Christopher G. Roth, MD, MS-HQS

++

Associate Professor

++

Director, Abdominal Imaging Division

++

Vice Chair, Quality and Performance

++

Vice Chair, Methodist Hospital Division

++

Department of Radiology

++

Sidney Kimmel Medical College

++

Thomas Jefferson University

++

Philadelphia, Pennsylvania, USA

++

 

++

Karl S. Roth, MD

++

Professor & Chair (Retired)

++

Department of Pediatrics

++

Creighton University School of Medicine

++

Consulting Staff

++

University of Nebraska School of Medicine

++

Omaha, Nebraska, USA

++

 

++

Amy K. Saenger, PhD, DABCC

++

Associate Professor

++

Department of Laboratory Medicine and Pathology

++

University of Minnesota

++

Minneapolis, Minnesota, USA

++

 

++

Denise Salazar, PhD

++

Quest Diagnostics, Inc.

++

Nichols Institute

++

San Juan Capistrano, California, USA

++

 

++

Kyriakie Sarafoglou, MD

++

Director, Leo Fung Center for Congenital Adrenal Hyperplasia and Disorders of Sex Development

++

Division of Pediatric Endocrinology

++

Division of Genetics & Metabolism

++

University of Minnesota Medical School

++

Minneapolis, Minnesota, USA

++

 

++

Juergen R. Schaefer, MD

++

Department of Internal Medicine

++

Cardiology, Angiology and CAD Prevention

++

Center for Undiagnosed and Rare Diseases

++

University Clinic Marburg

++

Philipps University

++

Marburg, Germany

++

 

++

Rajesh Sharma, PhD

++

Quest Diagnostics, Inc.

++

Nichols Institute

++

San Juan Capistrano, California, USA

++

 

++

Peter N. Schlegel, MD, FACS

++

James J. Colt Professor and Chairman, Department of Urology

++

Weill Cornell Medical College

++

Urologist-in-Chief

++

New York Presbyterian Hospital

++

New York, New York, USA

++

 

++

Andrea Schlune, MD

++

Department of General Pediatrics, Neonatology and Pediatric Cardiology

++

University Children's Hospital

++

Heinrich-Heine-University Dusseldorf

++

Dusseldorf, Germany

++

 

++

Benedikt Schoser, MD

++

Professor of Neurology

++

Friedrich-Baur-Institute

++

Clinic of Neurology

++

University of Munich

++

Munich, Germany

++

 

++

Andreas Schulze, MD, PhD, FRCPC

++

Associate Professor

++

Department of Paediatrics

++

Department of Biochemistry

++

University of Toronto

++

Head, Section of Metabolic Genetics

++

Medical Director, Newborn Screening Program

++

Associate Scientist, Research Institute

++

The Hospital for Sick Children

++

Toronto, Ontario, Canada

++

 

++

Janet Silverstein, MD

++

Professor of Pediatrics

++

Chief, Division of Pediatric Endocrinology

++

University of Florida College of Medicine

++

Gainesville, Florida, USA

++

 

++

G. Peter A. Smit, MD, PhD

++

Department of Paediatrics

++

University of Groningen

++

The Netherlands

++

 

++

Leandro Soriano-Guillén, MD, PhD

++

Associate Professor of Pediatrics

++

Universidad Autónoma de Madrid

++

Head, Department of Pediatrics

++

Hospital Universitario Fundación Jiménez Díaz

++

Instituto de Investigación Fundación Jiménez Díaz

++

Madrid, Spain

++

 

++

Muhidien Soufi, PhD

++

Department of Internal Medicine

++

Cardiology, Angiology and CAD Prevention

++

University Hospital Giessen and Philipps University Marburg

++

Center for Undiagnosed and Rare Diseases

++

University Clinic Marburg Philipps

++

Marburg, Germany

++

 

++

Charles A. Stanley, MD

++

Senior Physician, Division of Endocrinology & Diabetes

++

Children's Hospital of Philadelphia

++

Emeritus Professor of Pediatrics

++

Perelman School of Medicine at the University of Pennsylvania

++

Philadelphia, Pennsylvania, USA

++

 

++

Constantine A. Stratakis, MD, DMSci

++

Senior Investigator and Scientific Director

++

Eunice Kennedy Shriver National Institute of Child Health and Human Development

++

National Institutes of Health

++

Bethesda, Maryland, USA

++

 

++

Marshall L. Summar, MD

++

Chief, Genetics and Metabolism

++

Professor of Pediatrics

++

George Washington University

++

Children's National Medical Center

++

Washington D.C., USA

++

 

++

Gabor Szinnai, MD, PhD

++

Senior Lecturer

++

Division of Pediatric Endocrinology and Diabetology

++

University Children's Hospital Basel

++

University Basel

++

Basel, Switzerland

++

 

++

Mark A. Tarnopolsky, MD, PhD, FRCP(C)

++

Professor of Pediatrics and Medicine,

++

Hamilton Hospitals Assessment Centre Endowed Chair in Neuromuscular Disorders

++

Director of Neuromuscular and Neurometabolic Clinic

++

McMaster University Medical Center

++

Hamilton, Ontario, Canada

++

 

++

Carrie Ann Terrell, MD

++

Assistant Professor

++

Department of Obstetrics, Gynecology and Women's Health

++

Director, Division of Obstetrics & Gynecology

++

Medical Director, Women's Health Specialists Clinic

++

University of Minnesota

++

Minneapolis, Minnesota, USA

++

 

++

Christian Thiel, PhD

++

Department of Paediatrics

++

Center for Child and Adolescent Medicine

++

University of Heidelberg

++

Heidelberg, Germany

++

 

++

Beat Thöny, PhD

++

Professor of Clinical Biochemistry

++

Division of Metabolism

++

University Children's Hospital Zürich

++

Eleonore Foundation

++

Zürich, Switzerland

++

 

++

Paul Thornton, MD

++

Medical Director, Division of Endocrinology

++

Cook Children's Medical Center

++

Fort Worth, Texas, USA

++

 

++

Filippo Vairo, MD, PhD

++

Medical Genetics Service

++

Hospital de Clínicas de Porto Alegre

++

Porto Alegre, Brazil

++

 

++

Johan L.K. Van Hove, PhD, MBA

++

Professor of Pediatrics

++

Section of Clinical Genetics and Metabolism

++

Department of Pediatrics

++

University of Colorado Denver

++

Aurora, Colorado, USA

++

 

++

Guy Van Vliet, MD

++

Professeur de Pédiatrie

++

Université de Montréal,

++

Service d'Endocrinologie, Hôpital Sainte-Justine

++

Montreal, Quebec, Canada

++

 

++

Jerry Vockley, MD, PhD

++

Cleveland Family Professor of Pediatric Research

++

University of Pittsburgh

++

Professor of Human Genetics

++

Chief of Medical Genetics

++

Director of the Center for Rare Disease Therapy

++

Children's Hospital of Pittsburgh

++

Pittsburgh, Pennsylvania, USA

++

 

++

Ronald J.A. Wanders, PhD

++

Professor Clinical Enzymology of Metabolic Diseases

++

Departments of Clinical Chemistry & Pediatrics

++

Emma Children's Hospital

++

Laboratory Genetic Metabolic Diseases

++

Academic Medical Center

++

University of Amsterdam

++

Amsterdam, The Netherlands

++

 

++

Leanne M. Ward, MD

++

Division of Endocrinology and Metabolism

++

Children's Hospital of Eastern Ontario

++

Department of Pediatrics

++

University of Ottawa

++

Ottawa, Ontario, Canada

++

 

++

Garry Warne, AM, MBBS, FRACP

++

Professorial Fellow, Department of Paediatrics

++

University of Melbourne

++

Honorary Emeritus Visiting Medical Officer, Department of Endocrinology

++

Royal Children's Hospital Melbourne

++

Esteemed Honorary Fellow, Murdoch Children's Research Institute

++

Parkville, Victoria, Australia

++

 

++

David Watkins, PhD

++

Department of Human Genetics

++

McGill University

++

Montreal, Quebec, Canada

++

 

++

David A. Weinstein, MD, MMSc

++

Professor of Pediatrics

++

Director, Glycogen Storage Disease Program

++

Division of Pediatric Endocrinology

++

University of Florida College of Medicine

++

Gainesville, Florida, USA

++

 

++

Perrin C. White, MD

++

Professor of Pediatrics

++

University of Texas Southwestern Medical Center

++

Chief of Endocrinology

++

Children's Medical Center Dallas

++

Dallas, Texas, USA

++

 

++

Michèl A.A.P. Willemsen, MD

++

Professor of Pediatric Neurology

++

Radboud University Medical Centre

++

Nijmegen, The Netherlands

++

 

++

Joseph I. Wolfsdorf, MB, Bch

++

Professor of Pediatrics

++

Harvard Medical School

++

Boston Children‘s Hospital Chair in Endocrinology

++

Director, Diabetes Program

++

Division of Endocrinology

++

Boston Children's Hospital

++

Boston, Massachusetts, USA

++

 

++

Jamie R. Wood, MD

++

Associate Professor of Clinical Pediatrics

++

The Keck School of Medicine of USC

++

Medical Director, Comprehensive Childhood Diabetes Center

++

Center for Diabetes, Endocrinology, and Metabolism

++

Children's Hospital Los Angeles

++

Los Angeles, California, USA

++

 

++

J. Ed. Wraith, MB ChB, FRCPCH

++

Honorary Professor of Paediatric Inherited Metabolic Medicine

++

Manchester Academic Health Sciences Centre

++

Genetic Medicine

++

St Mary's Hospital

++

Manchester, United Kingdom

++

 

++

Marc Yudkoff, MD

++

WT Grant Professor of Pediatrics

++

Perelman School of Medicine at the University of Pennsylvania

++

Children's Hospital of Philadelphia

++

Philadelphia, Pennsylvania, USA

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