MediFind found 47 doctor with experience in Pompe Disease.
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.
Office
Dr. Mazen Dimachkie, MD is a Clinical Neurophysiologist in Kansas City, KS and has over 34 years of experience in the medical field. He graduated from American University of Beirut / Faculty of Medicine in 1988. He is affiliated with medical facilities LMH Health and University Of Kansas Hospital. 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, Thymectomy, and Tissue Biopsy.
UCSF Benioff Children's Hospital Gastroenterology Clinic
Dr. Paul Harmatz is a Pediatric Gastroenterologist who specializes in mucopolysaccharidoses (MPS) and other lysosomal storage diseases. He is the Medical Director of the Pediatric Clinical Research Program in Mucopolysaccharidoses (MPS) and Related Disorders at UCSF Benioff Children's Hospital. Dr. Harmatz has been the Principal Investigator on multiple clinical trials involving MPS and its variants. He is licensed to practice in CA. Dr. Harmatz is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome).
Roberto Giugliani practices in Porto Alegre, Brazil. Mr. Giugliani is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Bone Marrow Transplant.
Fairview Express Care
Chester Whitley is a Pediatrics specialist and a Medical Genetics provider in Minneapolis, Minnesota. Dr. Whitley is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). Dr. Whitley is currently accepting new patients.
Eugen Mengel practices in Hochheim, Germany. Mr. Mengel is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Niemann-Pick Disease, Non-Langerhans-Cell Histiocytosis, Acid Sphingomyelinase Deficiency (ASMD), and Histiocytosis.
UCI Health ALS & Neuromuscular Center
Dr. Tahseen Mozaffar is a Professor of Neurology, Orthopaedic Surgery and Pathology and Laboratory Medicine at University of California, Irvine. He is the Director of the UC Irvine-MDA ALS and Neuromuscular Center and the Director of the Division of Neuromuscular Diseases. Dr. Mozaffar serves as chair of one of the biomedical committees and the institutional liaison for Trials Innovation Hub for the Center for Translational Sciences Award (CTSA) at University of California, Irvine. He is the Principal Investigator for UCI-NEXT, the NeuroNEXT award to the University of California, Irvine, one of 25 such NeuroNEXT sites funded by the NINDS/NIH.. Dr. Mozaffar is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Inclusion Body Myositis, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy.
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.
Frances Platt practices in Oxford, United Kingdom. Ms. Platt is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Niemann-Pick Disease, Sandhoff Disease, Non-Langerhans-Cell Histiocytosis, and Histiocytosis.
Arndt Rolfs practices in Berlin, Germany. Rolfs is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Niemann-Pick Disease, Fabry Disease, Gaucher Disease, and Non-Langerhans-Cell Histiocytosis.
Robin Lachmann practices in London, United Kingdom. Lachmann is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Fabry Disease, X-Linked Hypophosphatemia, and Osteotomy.
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 Type 2, Myotonic Dystrophy, Paramyotonia Congenita, Pompe Disease, and Thymectomy.
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, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Bone Marrow Aspiration. Dr. Byrne is currently accepting new patients in some locations.
Carlo Vici-Dionisi practices in Rome, Italy. Mr. Vici-Dionisi is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Argininosuccinic Aciduria, Vici Syndrome, Urea Cycle Disorders (UCD), Liver Transplant, and Pancreaticoduodenectomy.
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).
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.
Derralynn Hughes practices in London, United Kingdom. Hughes is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Fabry Disease, Gaucher Disease, Gaucher Disease Type 1, Splenectomy, and Pacemaker Implantation.
Anna Szymanska-Tylki practices in Warsaw, Poland. Ms. Szymanska-Tylki is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Gaucher Disease, Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Gaucher Disease Type 1, and Liver Transplant.
Amelia Morrone practices in Florence, Italy. Ms. Morrone is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), and PMM2-Congenital Disorder of Glycosylation.
SNY Corp. Inc.
Kumaraswamy Sivakumar is a Neurologist in Phoenix, Arizona. Dr. Sivakumar is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Inclusion Body Myositis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, and Pompe Disease.
Last Updated: 01/09/2026