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    Last Updated: 10/30/2025

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    MediFind found 47 doctor with experience in Pompe Disease.

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    47 providers found
      Elite in Pompe Disease
      Elite in Pompe Disease

      Duke Health Integrated Practice Inc

      40 Duke Medicine Cir, 
      Durham, NC 
      Languages Spoken:
      English
      Accepting New Patients

      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.

      Paul R. Harmatz
      Elite in Pompe Disease
      Pediatric Gastroenterology | Gastroenterology
      Elite in Pompe Disease
      Pediatric Gastroenterology | Gastroenterology

      UCSF Benioff Children's Hospital Gastroenterology Clinic

      744 52nd St, 5th Floor, 
      Oakland, CA 
      Languages Spoken:
      English
      Offers Telehealth

      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).

      What does Elite, Distinguished, Advanced, Experienced mean?
      Elite in Pompe Disease
      Elite in Pompe Disease
      Porto Alegre, RS, BR 

      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.

      Learn about our expert tiers
      Elite in Pompe Disease
      Elite in Pompe Disease

      Kansas University Physicians Inc

      4000 Cambridge St, 
      Kansas City, KS 
      Languages Spoken:
      English, Arabic, French
      Offers Telehealth

      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, Pompe Disease, and Thymectomy.

      Elite in Pompe Disease
      Pediatrics | Medical Genetics
      Elite in Pompe Disease
      Pediatrics | Medical Genetics

      Fairview Express Care

      2450 Riverside Ave, 
      Minneapolis, MN 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Hochheim, TH, DE 

      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, Acid Sphingomyelinase Deficiency (ASMD), Non-Langerhans-Cell Histiocytosis, and Reticulohistiocytoma.

      Elite in Pompe Disease
      Elite in Pompe Disease

      UCI Health ALS & Neuromuscular Center

      200 South Manchester Avenue, Suite 110, 
      Orange, CA 
      Languages Spoken:
      English
      Accepting New Patients

      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 Inclusion Body Myositis, Pompe Disease, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy.

      Elite in Pompe Disease
      Pediatrics | General Practice
      Elite in Pompe Disease
      Pediatrics | General Practice
      11212 Waples Mill Rd, Suite 103, 
      Fairfax, VA 
      Languages Spoken:
      English, Spanish, Turkish
      Accepting New Patients

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Mansfield Road, 
      Oxford, ENG, GB 

      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 Reticulohistiocytoma.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Berlin, BE, DE 

      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, Gaucher Disease, Fabry Disease, and Non-Langerhans-Cell Histiocytosis.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Queen Square, 
      London, ENG, GB 

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Munich, BY, DE 

      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.

      Elite in Pompe Disease
      Pediatric Cardiology | Pediatrics
      Elite in Pompe Disease
      Pediatric Cardiology | Pediatrics
      1600 Sw Archer Rd, 
      Gainesville, FL 
      Languages Spoken:
      English
      Accepting New Patients

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Rome, IT 

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Messina, IT 

      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).

      Elite in Pompe Disease
      Elite in Pompe Disease
      4 Centre De Référence De Pathologie Neuromusculaire Paris Est, 
      Paris, FR 

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease
      UCL Queen Square Institute Of Neurology, 
      London, ENG, GB 

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Florence, IT 

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease
      Warsaw, MZ, PL 

      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.

      Paula R. Clemens
      Distinguished in Pompe Disease
      Neuromusculoskeletal Medicine
      Distinguished in Pompe Disease
      Neuromusculoskeletal Medicine

      UPMC Department Of Neurology

      3471 5th Avenue, Suite 810, 
      Pittsburgh, PA 
      Languages Spoken:
      English
      Offers Telehealth

      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 a Distinguished 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.

      Showing 1-20 of 47

      Last Updated: 10/30/2025

      What is the definition of Pompe Disease?

      Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

      Which doctors treat Pompe disease?     

      Pompe disease is usually treated by a multidisciplinary team of specialists. This care team can include a neurologist, who treats nerve and muscle problems, and a geneticist, who understands conditions caused by changes in genes. Cardiologists may help if the heart is affected, while pulmonologists help if breathing is a concern. Physical therapists and dietitians may also be part of the care team to assist with muscle strength and nutrition. 

      How is Pompe disease diagnosed?     

      Pompe disease is a rare genetic disorder, so diagnosing it can sometimes take time. Doctors usually start with blood tests to check the level of an enzyme called acid alpha-glucosidase (GAA). People with Pompe disease have low levels of this enzyme. If the blood test shows a problem, genetic testing is often done to confirm the diagnosis by looking for changes in the GAA gene. Sometimes, doctors may also do a muscle biopsy, where a small sample of muscle is taken and checked for signs of the disease. Early diagnosis is important for starting treatment as soon as possible. 

      How is Pompe disease treated? 

      Pompe disease is treated with enzyme replacement therapy (ERT). This treatment gives the body more of the enzyme that is missing or not working well. ERT is delivered through an IV and helps slow down the muscle damage caused by Pompe disease. Other treatments depend on how the disease affects the body. Physical therapy can help keep muscles strong and improve movement. Some people may need breathing support, like using a ventilator, if their lungs are affected. In severe cases, especially in infants, heart care may also be needed. A dietitian might help with nutrition, especially if eating or swallowing becomes hard.  

      What is the life expectancy for someone with Pompe disease? 

      Life expectancy for someone with Pompe disease depends on the type and when it’s diagnosed. Infantile-onset Pompe disease, which appears in babies, can be very serious. Without treatment, babies may not survive beyond their first year. With ERT and early diagnosis, some babies can live much longer. In late-onset Pompe disease, which appears later in life, life expectancy varies but can be improved with treatment. While Pompe disease is lifelong, early treatment and regular care can help people manage their symptoms and improve their quality of life.   

      When should I see a Pompe Disease doctor near me?

      There are various reasons why you may want to see a specialist, such as: 

      • Your primary care provider recommends it. 
      • Your condition requires expert knowledge and specialized care. 
      • Your symptoms persist or worsen despite treatment. 
      • You need specialized testing or procedures. 
      • You want a second opinion.  

      What should I consider when choosing a Pompe Disease doctor near me?

      It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

      How does MediFind rank Pompe Disease doctors near me?

      MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

      What types of insurance are accepted by Pompe Disease doctors near me?

      Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

      How can I book an appointment online with a Pompe Disease doctor near me?

      MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Pompe Disease doctor search results page. 

      Why is it important to get a second opinion from a different Pompe Disease doctor?

      Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

      How can I prepare for my appointment with a Pompe Disease doctor near me?

      Prepare for your appointment by gathering the following items: 

      • Copies of medical records (dating back at least one year) 
      • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
      • Family history of disease 
      • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
      • Allergies to medications, food, latex, insects, etc.  
      • List of questions and concerns 
      • Your insurance card 

      You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

      What questions should I ask my Pompe Disease doctor?

      Here are some sample questions: 

      • Can you explain in simple terms what this condition is and how it’s treated? 
      • What symptoms or side effects should I watch for? 
      • What tests will be involved, and when can I expect results? 
      • Are there other specialists I need to see? 
      • What’s the best way to reach you if I have follow-up questions? 

      How can I learn about the latest clinical trials and research advances my Pompe Disease doctor may know about?

      MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

      MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

      Can I filter my search to show male or female Pompe Disease doctors near me?

      Look for the filter feature on the left side of the Pompe Disease doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

      Can I filter my search to find a Pompe Disease doctor that offers video calls?

      Look for the filter feature on the left-side of the Pompe Disease doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

      Reviewed on: 11/11/24  

      By: MediFind Medical Staff 

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