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    Last Updated: 10/30/2025

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    MediFind found 1075 doctor with experience in Pompe Disease near The United States. Of these, 911 are Experienced, 112 are Advanced, 29 are Distinguished and 16 are Elite.

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    1,075 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.

      Dwight D. Koeberl
      Elite in Pompe Disease
      Medical Genetics | Pediatrics
      Elite in Pompe Disease
      Medical Genetics | Pediatrics

      Duke University Hospital

      2301 Erwin Rd, 
      Durham, NC 
      Languages Spoken:
      English
      Offers Telehealth

      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.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Raymond Y. Wang
      Elite in Pompe Disease
      Medical Genetics
      Elite in Pompe Disease
      Medical Genetics
      1201 West La Veta Avenue, 
      Orange, CA 
      Languages Spoken:
      English

      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.

      Learn about our expert tiers
      Paula R. Clemens
      Elite in Pompe Disease
      Neuromusculoskeletal Medicine
      Elite 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 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.

      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

      UCI Health ALS & Neuromuscular Center

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

      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.

      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

      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.

      Elite in Pompe Disease
      Elite in Pompe Disease

      Sjhmc Physician Services

      500 W Thomas Rd, 680 Dhmg St Joseph's Pelvi, 
      Phoenix, AZ 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      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.

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

      Uc Regents Uci Dept Of Pediatrics

      101 The City Dr S, 
      Orange, CA 
      Languages Spoken:
      English

      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).

      Elite in Pompe Disease
      Elite in Pompe Disease

      Children's Hospital Medical Center

      3333 Burnet Ave, 
      Cincinnati, OH 
      Languages Spoken:
      English, Arabic, Arabic - Jordanian
      Accepting New Patients

      Hani Kushlaf is a Neurologist in Cincinnati, Ohio. Dr. Kushlaf is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Myasthenia Gravis, Inclusion Body Myositis, Potassium-Aggravated Myotonia, and Thymectomy. Dr. Kushlaf is currently accepting new patients.

      Elite in Pompe Disease
      Pulmonary Medicine
      Elite in Pompe Disease
      Pulmonary Medicine
      462 1st Ave, Nb7n2, 
      New York, NY 
      Languages Spoken:
      English

      Kenneth Berger is a Pulmonary Medicine provider in New York, New York. Dr. Berger is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Acid Sphingomyelinase Deficiency (ASMD), Chronic Obstructive Pulmonary Disease (COPD), and Emphysema.

      Elite in Pompe Disease
      Internal Medicine
      Elite in Pompe Disease
      Internal Medicine
      3901 Beaubien St, 
      Detroit, MI 
      Languages Spoken:
      English

      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. His top areas of expertise are Pompe Disease, Danon Disease, Multiple Sulfatase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

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

      Westchester Medical Center Advanced Physician Services PC

      100 Woods Rd, Macy Pavillion, 
      Valhalla, NY 
      Languages Spoken:
      English
      Offers Telehealth

      David Kronn is a Medical Genetics specialist and a Pediatrics provider in Valhalla, New York. Dr. Kronn is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Phenylketonuria (PKU), Krabbe Disease, and Gaucher Disease Type 3.

      Elite in Pompe Disease
      Elite in Pompe Disease
      121 Dekalb Ave, 
      Brooklyn, NY 
      Languages Spoken:
      English

      Suhrad Banugaria is a Pediatrics provider in Brooklyn, New York. Dr. Banugaria is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Delayed Growth, and Autism Spectrum Disorder.

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

      Regents Of The University Of Michigan

      1500 E Medical Ctr Dr, 
      Ann Arbor, MI 
      Languages Spoken:
      English, Urdu
      Accepting New Patients

      Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider in Ann Arbor, Michigan. Dr. Ahmad is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Classic Galactosemia. Dr. Ahmad is currently accepting new patients.

      Mei-tsi B. Lawing
      Advanced in Pompe Disease
      Family Medicine
      Advanced in Pompe Disease
      Family Medicine

      Atrium Health Primary Care One Health Family Medicine Reese Blvd.

      13620 Reese Blvd., E., Suite 125, 
      Huntersville, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      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. Her top areas of expertise are Pompe Disease, Danon Disease, Transient Global Amnesia, and Type 2 Diabetes (T2D). Dr. Lawing is currently accepting new patients.

      Maryjane A. Farr
      Experienced in Pompe Disease
      Advanced Heart Failure and Transplant Cardiology | Cardiology
      Experienced in Pompe Disease
      Advanced Heart Failure and Transplant Cardiology | Cardiology

      University Of Texas Southwestern Medical Center At Dallas

      5939 Harry Hines Blvd, 
      Dallas, TX 
      Languages Spoken:
      English

      Maryjane Farr is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in Dallas, Texas. Dr. Farr is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Heart Failure, Cardiogenic Shock, Cardiomyopathy, Pulmonary Edema, and Heart Transplant.

      Richard J. Barohn
      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      The Curators Of The University Of Missouri

      1020 Hitt St, Neurology Clinic Univ Of M, 
      Columbia, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Richard Barohn is a Neurologist in Columbia, Missouri. Dr. Barohn 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, Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Thymectomy. Dr. Barohn is currently accepting new patients.

      Alan Pestronk
      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      Center For Advanced Medicine

      4921 Parkview Place, Suite 6C, 
      Saint Louis, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Alan Pestronk is a Neurologist in Saint Louis, Missouri. Dr. Pestronk is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Dysferlinopathy, Miyoshi Myopathy, Pompe Disease, and Myasthenia Gravis. Dr. Pestronk is currently accepting new patients.

      Showing 1-20 of 1,075

      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 in The United States?

      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 in The United States?

      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 in The United States?

      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 in The United States?

      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 in The United States?

      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 in The United States?

      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 in The United States?

      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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