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.

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.

Dr. Tahseen Mozaffar is a board-certified UCI Health neurologist who specialize in neuromuscular disorders, including amyotrophic lateral sclerosis (ALS), myasthenia gravis, inflammatory myopathies, Pompe disease, muscle pathology and all types of muscular dystrophies.He serves as director of the UCI Health ALS & Neuromuscular Center, one of only six Muscular Dystrophy Association-designated centers in California.Mozaffar earned his medical degree at the Aga Khan University in Karachi, Pakistan, where he completed a rotating internship in internal medicine and general surgery. He completed a neurology residency at Barnes-Jewish Hospital in St. Louis, Mo., followed by a fellowship in neuromuscular disorders at Washington University, also in St. Louis.His research focus includes clinical and translational studies of neuromuscular disorders and he is the principal site investigator of more than a dozen clinical trials for myasthenia gravis, immune myopathies and rare and ultra-rare myopathies. He is also the lead UCI investigator for NeuroNEXT, a collaborative national effort to help streamline phase 2 clinical trials for brain disorders that is supported by the National Institute of Neurological Disorders and Stroke (NINDS).As an expert in rare and ultra-rare myopathies, he advises many pharmaceutical companies on clinical trial design and the identification of disease targets. He serves on a Pompe disease advisory board for Amicus Therapeutics and Spark Therapeutics, as well as on the data safety monitoring board for Acceleron and Sarepta Therapeutics. He also is a reviewer with the Emerging Technologies and Training in Neurosciences (ETTN) group for the National Institutes of Health (NIH). He has co-authored more than 175 peer-reviewed publications and has written or co-written more than a dozen book chapters and reviews.Mozaffar, who is also fluent in Hindi and Urdu, sees patients inIrvineandOrange. 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 American Board Of Psychiatry And Neurology - Neurology.

Dr. Virginia E. Kimonis is a board-certified UCI Health clinician-scientist who specializes in the diagnosis and treatment of children and adults with neuromuscular, neurodegenerative, dysmorphia and other complex disorders.Her clinical interests include inclusion body myopathy, Paget disease, Pompe disease, frontotemporal dementia, Prader Willi syndrome, morbid obesity and craniosynostosis.Kimonis earned her medical degree at the University of Southampton Medical School in Southampton, England. She completed a residency in pediatrics at Massachusetts General Hospital in Boston, followed by a fellowship in clinical and biochemical genetics at the National Institutes of Health (NIH) and Children's National Hospital in Washington, D.C.The author or co-author of more than 175 peer-reviewed publications in prestigious journals, Kimonis has focused her research primarily on inherited muscle disorders, lysosomal storage diseases, Prader Willi and several other rare disorders. She developed the Lysosomal Disease Program, established a registry study among a large cohort of patients with Pompe disease, and conducted a study of resistance training for axial and respiratory muscles in Pompe disease as an adjunct to enzyme replacement treatment.She also discovered multisystem proteinopathy, a new disease type associated with mutations in the VCP gene that overlaps with Pompe disease. She has received research funding from numerous agencies, including NIH, the Muscular Dystrophy Association, the Paget Foundation and other rare disease foundations.Kimonis also is a lead investigator with the newly establishedNational Organization for Rare Disorders (NORD) Rare Disease Center of Excellence, a joint program of UCI Health and Children's Hospital of Orange County (CHOC). Dr. Kimonis is rated as an Elite 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 Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.

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.

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 15 other conditions, according to our data. Her clinical expertise encompasses Gaucher Disease, Fabry Disease, Gaucher Disease Type 1, and Pompe Disease.

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 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.

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.

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, Myasthenia Gravis, Myositis, 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 Dermatomyositis. 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), Pompe Disease, Danon 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.

Christopher Lee is a Neurologist practicing medicine in Nashville, Tennessee. Dr. Lee is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Guillain-Barre Syndrome, and Gamma Knife Radiosurgery. Dr. Lee is board certified in American Board Of Psychiatry & Neurology.

Jason Korenblit is a Gastroenterologist practicing medicine in Atlanta, Georgia. Dr. Korenblit is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 70 other conditions, according to our data. His clinical expertise encompasses Choledocholithiasis, Gastric Dysmotility, Barrett Esophagus, Endoscopy, and Gastrectomy. Dr. Korenblit is board certified in American Board Of Internal Medicine.