The 20 Best Pompe Disease Doctors Near Me
Find Doctors who have experience with Miglustat
Duke Health Integrated Practice Inc
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.
Clinical Research Center
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. 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.
M Health Fairview Explorer Pediatric Specialty Clinic
Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Whitley is board certified in Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984. Dr. Whitley is currently accepting new patients.
UCI Health ALS & Neuromuscular Center
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.
UCSF Benioff Children's Hospital Oakland
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. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses 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). Dr. Harmatz is board certified in American Board Of Pediatrics.
Roberto Giugliani practices practicing medicine in Porto Alegre, Brazil. Mr. Giugliani is rated as an Elite expert 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 Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Bone Marrow Transplant.
Eugen Mengel practices practicing medicine in Hochheim, Germany. Mr. Mengel is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Niemann-Pick Disease, Acid Sphingomyelinase Deficiency (ASMD), Non-Langerhans-Cell Histiocytosis, and Reticulohistiocytoma.
Ozlem Goker-Alpan MD LLC
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.
Frances Platt practices practicing medicine in Oxford, United Kingdom. Ms. Platt is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 23 other conditions, according to our data. Her clinical expertise encompasses Niemann-Pick Disease, Sandhoff Disease, Non-Langerhans-Cell Histiocytosis, and Reticulohistiocytoma.
Arndt Rolfs practices practicing medicine in Berlin, Germany. Rolfs is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 30 other conditions, according to our data. Their clinical expertise encompasses Niemann-Pick Disease, Gaucher Disease, Fabry Disease, and Non-Langerhans-Cell Histiocytosis.
Robin Lachmann practices practicing medicine in London, United Kingdom. Lachmann is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 20 other conditions, according to our data. Their clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Fabry Disease, X-Linked Hypophosphatemia, and Osteotomy.
Benedikt Schoser practices practicing medicine in Munich, Germany. Mr. Schoser is rated as an Elite expert 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 Myotonic Dystrophy Type 2, Myotonic Dystrophy, Paramyotonia Congenita, Pompe Disease, and Thymectomy.
Carlo Vici-Dionisi practices practicing medicine in Rome, Italy. Mr. Vici-Dionisi is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 54 other conditions, according to our data. His clinical expertise encompasses Argininosuccinic Aciduria, Vici Syndrome, Urea Cycle Disorders (UCD), Liver Transplant, and Pancreaticoduodenectomy.
UF Health Center For Pediatric Neuromuscular And Rare Diseases
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.
Antonio Toscano practices practicing medicine in Ivrea, Italy. Mr. Toscano is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Myoglobinuria Recurrent, Rhabdomyolysis, Thrombectomy, and Liver Transplant.
Pascal Laforet practices practicing medicine in Paris, France. Mr. Laforet is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 36 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Glycogen Storage Disease Type 3, Rhabdomyolysis, Paramyotonia Congenita, and Thymectomy.
Derralynn Hughes practices practicing medicine in London, United Kingdom. Hughes is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Fabry Disease, Gaucher Disease, Gaucher Disease Type 1, Splenectomy, and Pacemaker Implantation.
Amelia Morrone practices practicing medicine in Florence, Italy. Ms. Morrone is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses 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.
Jordi Manera-Diaz practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Manera-Diaz is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 23 other conditions, according to our data. Their clinical expertise encompasses Pompe Disease, Limb-Girdle Muscular Dystrophy, Dysferlinopathy, and Delta-Sarcoglycanopathy.
Anna Szymanska-Tylki practices practicing medicine in Warsaw, Poland. Ms. Szymanska-Tylki is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 34 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Gaucher Disease, Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Liver Transplant, and Bone Marrow Transplant.
Last Updated: 06/30/2026



