My practice includes caring for children and adults with inherited conditions, such as inherited disorders of metabolism, genetic syndromes, mitochondrial disorders, inherited causes of growth failure or developmental delay, and conditions detected by newborn screening. My clinic works with the Pediatric Biochemical Genetics Laboratory to diagnose these conditions. We provide treatment for inherited disorders of metabolism. I work closely with the geneticists, neurologists, pediatricians, internists, and other providers at Duke University Medical Center to provide comprehensive care for my patients. My research has been aimed at developing new treatments for inherited conditions, focusing on glycogen storage diseases, like Pompe disease and von Gierke disease. We have developed gene therapy for these conditions and are in the process of starting clinical trials to test safety and benefits. Dr. Koeberl is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome.

Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

Virginia Kimonis is a Medical Genetics specialist and a Pediatrics provider in Orange, California. Dr. Kimonis is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT).

David Kronn is a Medical Genetics specialist and a Pediatrics provider in Valhalla, New York. Dr. Kronn is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Phenylketonuria (PKU), Krabbe Disease, and Gaucher Disease Type 3.

Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider in Ann Arbor, Michigan. Dr. Ahmad is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Classic Galactosemia. Dr. Ahmad is currently accepting new patients.

Mari Mori is a Medical Genetics specialist and a Pediatrics provider in Maitland, Florida. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Glycogen Storage Disease Type 7, FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Von Gierke Disease. Dr. Mori is currently accepting new patients.

Lauren Massingham is a Medical Genetics specialist and a Pediatrics provider in Providence, Rhode Island. Dr. Massingham is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Hypotonia, Noonan Syndrome, Thanatophoric Dysplasia, and Lysosomal Acid Lipase Deficiency.

Susan Sparks is a Medical Genetics specialist and a Pediatrics provider in Charlotte, North Carolina. Dr. Sparks is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Smith-Lemli-Opitz Syndrome, ALG1-CDG, and Danon Disease.

Jaya Ganesh is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Ganesh is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Pompe Disease, and Fabry Disease.

Pranoot Tanpaiboon is a Medical Genetics specialist and a Pediatrics provider in Muang, Thailand. Dr. Tanpaiboon is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Farber Lipogranulomatosis, Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome).

Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Classic Galactosemia, Urea Cycle Disorders (UCD), Galactose Epimerase Deficiency, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider in Ann Arbor, Michigan. Dr. Quinonez is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Propionic Acidemia.

Joel Charrow is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Charrow is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Achondroplasia, Isovaleric Acidemia, and Splenectomy.

Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider in Springfield, Massachusetts. Dr. Abbott is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Danon Disease, and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome).

Nancy Leslie is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Leslie is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Pompe Disease, Ornithine Transcarbamylase Deficiency, and Mucopolysaccharidoses (MPS). Dr. Leslie is currently accepting new patients.

William Wilcox is a Medical Genetics provider in Atlanta, Georgia. Dr. Wilcox has been practicing medicine for over 37 years and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

Robert Hopkin is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Hopkin is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Fabry Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Micrognathia, and Orchiectomy.

William Rizzo is a Medical Genetics specialist and a Pediatrics provider in Omaha, Nebraska. Dr. Rizzo is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Sjogren-Larsson Syndrome, Zellweger Syndrome, Pompe Disease, and Danon Disease. Dr. Rizzo is currently accepting new patients.

Carlos Prada is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Prada is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are RASopathies, Gaucher Disease, Achondroplasia, and Gaucher Disease Type 1.

William Wilson is a Medical Genetics specialist and a Pediatrics provider in Charlottesville, Virginia. Dr. Wilson is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, Pompe Disease, and Danon Disease.