O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

• Rebecca Koch,
• Claudia Soler-Alfonso,
• Bridget Kiely,
• Akihiro Asai,
• Ariana Smith,
• Deeksha Bali,
• Peter Kang,
• Andrew Landstrom,
• H. Orhan Akman,
• T. Andrew Burrow,
• Jennifer Orthmann-Murphy,
• Deberah Goldman,
• Surekha Pendyal,
• Areeg El-Gharbawy,
• Stephanie Austin,
• Laura Case,
• Raphael Schiffmann,
• Michio Hirano,
• Priya Kishnani

Affiliations

Rebecca Koch

Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC

Claudia Soler-Alfonso

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Bridget Kiely

Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC

Akihiro Asai

Department of Pediatrics, University of Cincinnati Medical Center, Cincinnati, OH

Ariana Smith

Division of Urology, Department of Surgery, University of Pennsylvania Health System, Philadelphia, PA

Deeksha Bali

Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC

Peter Kang

Paul and Sheila Wellstone Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN

Andrew Landstrom

Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC

H. Orhan Akman

Department of Neurology, Columbia University Irving Medical Center, New York City, NY

T. Andrew Burrow

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children’s Hospital, Little Rock, AR

Jennifer Orthmann-Murphy

Department of Neurology, University of Pennsylvania, Philadelphia, PA

Deberah Goldman

Adult Polyglucosan Body Disease Research Foundation, Brooklyn, NY

Surekha Pendyal

Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC

Areeg El-Gharbawy

Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC

Stephanie Austin

Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC

Laura Case

Doctor of Physical Therapy Division, Department of Orthopedic Surgery, Duke University Medical Center, Durham, NC

Raphael Schiffmann

Texas Neurology Group, Dallas, TX

Michio Hirano

Department of Neurology, Columbia University Irving Medical Center, New York City, NY

Priya Kishnani

Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC