The 20 Best Pompe Disease Doctors in The United States

Priya Kishnani is a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.

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. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome. Dr. Koeberl is board certified in American Board Of Medical Genetics, Clinical Biochemical Genetics , American Board Of Medical Genetics, Clinical Genetics And Genomics - General , and American Board Of Pediatrics, General Pediatrics.

Mazen Dimachkie is a Neurologist practicing medicine in Fairway, Kansas. He has been practicing medicine for over 38 years. Dr. Dimachkie is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 39 other conditions, according to our data. His clinical expertise encompasses Myositis, Inclusion Body Myositis, Myasthenia Gravis, Thymectomy, and Tissue Biopsy. Dr. Dimachkie is board certified in United Council For Neurologic Subspecialties, Clinical Neuromuscular Pathology - 2015 , American Board Of Psychiatry And Neurology, Neuromuscular Medicine - 2008 , American Board Of Psychiatry And Neurology, Clinical Neurophysiology - 1996 , and American Board Of Psychiatry And Neurology, Neurology - 1995. Dr. Dimachkie is currently accepting new patients.

My mission, along with the St. Joseph Medical Group, is to focus on innovative clinical care and the pursuit of excellence through scholarly activities. This allows me to provide patients with state-of-the-art patient services and exceptional patient experiences. Dr. Ladha is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, and Spinal Muscular Atrophy (SMA). Dr. Ladha is board certified in Psychiatry & Neurology (Neurology) and Psychiatry & Neurology (Sub: Neuromuscular Medicine). Dr. Ladha is currently accepting new patients.

Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

Paula Clemens, MD, is a neurologist certified by the American Board of Psychiatry and Neurology. She is chief of the Division of Veterans Affairs and a professor of Neurology, Molecular Genetics and Biochemistry, Human Genetics, and Pediatrics at the University of Pittsburgh School of Medicine. She received her medical degree from the Medical College of Pennsylvania and completed her residency at Dartmouth-Hitchcock Medical Center, followed by a neuromuscular fellowship at Mayo Clinic and a molecular genetics fellowship at Baylor College of Medicine. Dr. Clemens is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Pompe Disease, and Myotonic Dystrophy Type 2. Dr. Clemens is board certified in American Board Of Psychiatry And Neurology.

Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Ahmad is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 50 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Ahmad is board certified in Clinical Biochemical Genetics and Clinical Genetics & Genomics.

Barry Byrne is a Pediatrics provider practicing medicine in Gainesville, Florida. Dr. Byrne is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Barth Syndrome, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Bone Marrow Aspiration.

Tahseen Mozaffar is a Neurologist practicing medicine in Orange, California. Dr. Mozaffar is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Inclusion Body Myositis, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy. Dr. Mozaffar is board certified in Board Certification In Neurology, 1996-2026, Board Certification In Neuromuscular Medicine, 2008-2028, and Board Certification In Clinical Neuromuscular Pathology, 2015 - 2025.

Ozlem Goker is a primary care provider, practicing in Pediatrics in Fairfax, Virginia. Dr. Goker is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Gaucher Disease, Fabry Disease, Gaucher Disease Type 1, and Gaucher Disease Type 3.

Virginia Kimonis is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Orange, California. Dr. Kimonis is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses 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 practicing medicine in Hawthorne, New York. Dr. Kronn is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Phenylketonuria (PKU), Krabbe Disease, and Gaucher Disease Type 2.

Kenneth Berger is a Pulmonary Medicine provider practicing medicine in New York, New York. Dr. Berger is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Acid Sphingomyelinase Deficiency (ASMD), Chronic Obstructive Pulmonary Disease (COPD), and Emphysema.

Hani Kushlaf is a Neurologist practicing medicine in Cincinnati, Ohio. Dr. Kushlaf is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Pompe Disease, Inclusion Body Myositis, Potassium-Aggravated Myotonia, and Thymectomy.

David Stockton is a primary care provider, practicing in Internal Medicine in Detroit, Michigan. Dr. Stockton is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Danon Disease, Multiple Sulfatase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

Suhrad Banugaria is a Pediatrics provider practicing medicine in Brooklyn, New York. Dr. Banugaria is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Pompe Disease, Delayed Growth, and Autism Spectrum Disorder.

Richard Barohn is a Neurologist practicing medicine in Kansas City, Kansas. Dr. Barohn is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Inclusion Body Myositis, Myositis, Myasthenia Gravis, Thymectomy, and Tissue Biopsy.

Kumaraswamy Sivakumar is a Neurologist practicing medicine in Phoenix, Arizona. Dr. Sivakumar is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 73 other conditions, according to our data. His clinical expertise encompasses Inclusion Body Myositis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, and Pompe Disease. Dr. Sivakumar is board certified in Psychiatry & Neurology (Neurology), Psychiatry & Neurology (Sub: Clinical Neurophysiolog, and Psychiatry & Neurology (Sub: Neuromuscular Medicine). Dr. Sivakumar is currently accepting new patients.

Cheri Fadlon is a Cardiologist practicing medicine in Allentown, Pennsylvania. Dr. Fadlon is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Heart Failure with Preserved Ejection Fraction (HFpEF), Danon Disease, Pompe Disease, and Ectopic Heartbeat. Dr. Fadlon is board certified in American Board Of Internal Medicine - Cardiovascular Disease and American Board Of Internal Medicine - Internal Medicine.

Mei-tsi Lawing is a primary care provider, practicing in Family Medicine in Huntersville, North Carolina. Dr. Lawing is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Danon Disease, Transient Global Amnesia, and Type 2 Diabetes (T2D). Dr. Lawing is currently accepting new patients.