MediFind found 3896 doctor with experience in Pompe Disease. Of these, 3419 are Experienced, 341 are Advanced, 96 are Distinguished and 33 are Elite.
Duke Health Integrated Practice Inc
Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.
Duke University Hospital
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.
UPMC Department Of Neurology
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. Her top areas of expertise are Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Pompe Disease, and Myotonic Dystrophy Type 2.
Barry Byrne is a Pediatric Cardiologist and a Pediatrics provider in Gainesville, Florida. Dr. Byrne is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Barth Syndrome, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, and Bone Marrow Aspiration. Dr. Byrne is currently accepting new patients in some locations.
UCI Health ALS & Neuromuscular Center
Tahseen Mozaffar is a Neurologist in Orange, California. Dr. Mozaffar is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Inclusion Body Myositis, Pompe Disease, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy. Dr. Mozaffar is currently accepting new patients.
Antonio Toscano practices in Messina, Italy. Mr. Toscano is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Myoglobinuria Recurrent, Rhabdomyolysis, Thrombectomy, and Transcatheter Aortic Valve Replacement (TAVR).
Jordi Manera-Diaz practices in Newcastle Upon Tyne, United Kingdom. Manera-Diaz is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Pompe Disease, Dysferlinopathy, Limb-Girdle Muscular Dystrophy, and Delta-Sarcoglycanopathy.
Pascal Laforet practices in Paris, France. Mr. Laforet is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Rhabdomyolysis, Myotonic Dystrophy Type 2, and Thymectomy.
Olimpia Musumeci practices in Messina, Italy. Ms. Musumeci is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Rhabdomyolysis, Myoglobinuria Recurrent, and Progressive External Ophthalmoplegia.
Ans Van Der Ploeg-Van Der Graaf practices in Rotterdam, Netherlands. Van Der Ploeg-Van Der Graaf is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Pompe Disease, Mucolipidosis Type 4, Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), and Mucopolysaccharidoses (MPS).
Kansas University Physicians Inc
Mazen Dimachkie is a Neurologist in Kansas City, Kansas. Dr. Dimachkie is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myositis, Inclusion Body Myositis, Myasthenia Gravis, Pompe Disease, and Thymectomy.
Sjhmc Physician Services
Shafeeq Ladha is a Neurologist in Phoenix, Arizona. Dr. Ladha is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, and Spinal Muscular Atrophy (SMA). Dr. Ladha is currently accepting new patients.
Yin-hsiu Chien practices in Taiwan. Chien is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Pompe Disease, Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency, Citrullinemia, Mucolipidosis Type 4, and Adenoidectomy.
Ozlem Goker-Alpan is a primary care provider, a Pediatrics specialist and a General Practice provider in Fairfax, Virginia. Dr. Goker-Alpan is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Gaucher Disease, Fabry Disease, Gaucher Disease Type 1, Gaucher Disease Type 3, and Splenectomy. Dr. Goker-Alpan is currently accepting new patients.
Uc Regents Uci Dept Of Pediatrics
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).
Corrado Angelini practices in Padova, Italy. Mr. Angelini is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Limb-Girdle Muscular Dystrophy, Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, and Heart Transplant.
Benedikt Schoser practices in Munich, Germany. Mr. Schoser is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, Pompe Disease, and Thymectomy.
Federico Mingozzi practices in Evry, France. Mr. Mingozzi is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Crigler-Najjar Syndrome, Rotor Syndrome, Pompe Disease, Hemophilia B, and Liver Transplant.
Tiziana Mongini practices in Turin, Italy. Ms. Mongini is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Facioscapulohumeral Muscular Dystrophy (FSHD), Becker Muscular Dystrophy, and Duchenne Muscular Dystrophy.
Last Updated: 10/30/2025


