Pediatric Endocrinology and Inborn Errors of Metabolism, 2e

Contributors

S. Faisal Ahmed, MD, FRCPCH

Samson Gemmell Chair of Child Health

Consultant in Paediatric Endocrinology

Royal Hospital for Children

Glasgow School of Medicine

University of Glasgow

Glasgow, United Kingdom

Brage Storstein Andresen, PhD, FRCPath

Professor of Human Molecular Genetics

Department of Biochemistry and Molecular Biology

University of Southern Denmark

Odense, Denmark

Sudha Anupindi, MD

Department of Radiology

Children's Hospital of Philadelphia

Associate Professor of Radiology

Perelman School of Medicine at the University of Pennsylvania

Philadelphia, Pennsylvania, USA

Jesús Argente, MD, PhD

Full Professor and Chairman, Department of Pediatrics

Universidad Autónoma de Madrid

Head, Department of Pediatrics & Pediatric Endocrinology

Hospital Infantil Universitario Niño Jesús

Instituto de Investigación La Princesa

Director, National Program of Childhood Obesity

Instituto de Salud Carlos III

Madrid, Spain

Philippe F. Backeljauw, MD

Professor of Pediatrics

Director, Pediatric Endocrinology Fellowship Program

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, USA

Bruce A. Barshop, MD, PhD

Professor of Pediatrics

Biochemical Genetics Program

University of California, San Diego

San Diego, California, USA

Andrew J. Bauer, MD

Director, The Thyroid Center

Division of Endocrinology and Diabetes

Children's Hospital of Philadelphia

Associate Professor of Pediatrics

Perelman School of Medicine at the University of Pennsylvania

Philadelphia, Pennsylvania, USA

Michael Beck, MD

Professor Emeritus

Institute of Human Genetics

University of Mainz

Mainz, Germany

Jirair K. Bedoyan, MD, PhD, FACMG

Clinical and Biochemical Geneticist

Assistant Professor, Departments of Genetics and Genome Sciences and Pediatrics

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

University Hospitals Cleveland Medical Center

Case Western Reserve University

Cleveland, Ohio, USA

Melena Bellin, MD

University of Minnesota Medical Center

Schulze Diabetes Institute

Associate Professor Pediatric Endocrinology

Director of Research, Islet Autotransplant Program

Minneapolis, Minnesota, USA

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

Professor of Pathology and Laboratory Medicine

Perelman School of Medicine at the University of Pennsylvania

Evelyn Willing Bromley Endowed Chair in Clinical Laboratories and Pathology

Chief, Division of Laboratory Medicine

Director, Clinical Chemistry and Metabolic Disease Laboratories

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, USA

Ignacio Bergadá, MD

Chief, División de Endocrinología

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

CONICET-FEI-División de Endocrinología

Hospital de Niños Ricardo Gutiérrez

Buenos Aires, Argentina

Gerard T. Berry, MD

Director, Metabolism Program

Boston Children's Hospital

Professor of Pediatrics

Harvard Medical School

Boston, Massachusetts, USA

Bala Bhagavath, MD

Associate Professor of Obstetrics and Gynecology

Division of Reproductive Endocrinology and Infertility

Director, Scibetta Fellowship in Minimally Invasive Gynecologic Surgery

Director, Third Party Reproduction

Co-Director, URMC Fibroid Center

University of Rochester Medical Center

Rochester, New York, USA

Ingemar Björkhem, MD, PhD

Professor of Clinical Chemistry

Division of Clinical Chemistry

Department of Laboratory Medicine

Karolinska Institutet

Karolinska University Hospital Huddinge

Stockholm, Sweden

Nenad Blau, PhD

Senior Consultant in Biochemical Genetics

Professor of Clinical Biochemistry

Dietmar-Hopp Metabolic Center

University Children's Hospital

Heidelberg, Germany

Henk J. Blom, PhD

Professor Biochemistry of Inherited Metabolic Diseases

Head of Laboratory/Clinical Biochemical Geneticist

Laboratory of Clinical Biochemistry and Metabolism

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

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

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

Clinical Assistant Professor

Stead Family Department of Pediatrics

Division of Medical Genetics

Medical Consultant to the Iowa Newborn Screening Program

University of Iowa Hospitals and Clinics

Iowa City, Iowa, USA

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

Clinical Assistant Professor

Department of Family Practice

Faculty of Medicine

University of British Columbia

Vancouver, British Columbia, Canada

Bruce R. Carr, MD

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

Professor of Obstetrics and Gynecology

Director, Division of Reproductive Endocrinology and Infertility

University of Texas Southwestern Medical Center

Dallas, Texas, USA

Anupam Chakrapani, MD, FRCPCH

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)

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)

Professor of Pediatric and Adolescent Endocrinology

Division of Endocrinology, Metabolism and Diabetes

First Department of Pediatrics, University of Athens Medical School

Aghia Sophia Children's Hospital

Division of Endocrinology and Metabolism

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

School of Clinical Medical Sciences (Child Health)

Sir James Spence Institute of Child Health

Royal Victoria Infirmary

Newcastle Upon Tyne, United Kingdom

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

Professor and Chairman

First Department of Pediatrics

University of Athens Medical School

Aghia Sofia Children's Hospital

Athens, Greece

Bruce H. Cohen, MD

Professor of Pediatrics, Northeast Ohio Medical University

Department of Pediatrics

Director, NeuroDevelopmental Science Center

Children's Hospital Medical Center of Akron

Akron, Ohio, USA

Gerard S. Conway, MD, FRCP

Professor of Reproductive Endocrinology

Institute for Women's Health

University College London

London, United Kingdom

Martine Cools, MD, PhD

Professor Consultant in Paediatric Endocrinology

Senior Clinical Investigator

Flanders Research Foundation

Queen Elisabeth Children's Hospital

Ghent University Hospital

University of Ghent

Ghent, Belgium

Tina M. Cowan, PhD, FACMG

Associate Professor of Pathology and Pediatrics

Director, Stanford Biochemical Genetics Laboratory

Stanford University Medical Center

Stanford, California, USA

Melanie Cree-Green, MD, PhD

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

Graduate School of Medicine

Gifu University

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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