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    Last Updated: 10/30/2025

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    MediFind found 49 doctor with experience in Pompe Disease near North Carolina, US. Of these, 38 are Experienced, 6 are Advanced, 3 are Distinguished and 2 are Elite.

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    49 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?
      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.

      Learn about our expert tiers
      Experienced in Pompe Disease
      Pediatric Cardiology
      Experienced in Pompe Disease
      Pediatric Cardiology

      Atrium Health Levine Children's HEARTest Yard Congenital Heart Center

      1001 Blythe Blvd., Suite 500, 
      Charlotte, NC 
      Experience:
      16+ years
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Matthew Lisi is a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Lisi has been practicing medicine for over 16 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Microcephaly Deafness Syndrome, CHARGE Syndrome, and Koolen De Vries Syndrome. Dr. Lisi is currently accepting new patients.

      Distinguished in Pompe Disease
      Medical Genetics | Pediatrics
      Distinguished in Pompe Disease
      Medical Genetics | Pediatrics
      1000 Blythe Blvd, 
      Charlotte, NC 
      Languages Spoken:
      English

      Susan Sparks is a Medical Genetics specialist and a Pediatrics provider in Charlotte, North Carolina. Dr. Sparks is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Smith-Lemli-Opitz Syndrome, ALG1-CDG, and Danon Disease.

      Distinguished in Pompe Disease
      Distinguished in Pompe Disease
      2100 Erwin Rd, 
      Durham, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Gail Spiridigliozzi is a Pediatrics provider in Durham, North Carolina. Dr. Spiridigliozzi is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, X-Linked Creatine Deficiency, Hypotonia, and Developmental Dysphasia Familial. Dr. Spiridigliozzi is currently accepting new patients.

      Distinguished in Pompe Disease
      Physician Assistant
      Distinguished in Pompe Disease
      Physician Assistant

      Lenox Baker Children's Hospital

      3000 Erwin Rd, 
      Durham, NC 
      Experience:
      26+ years
      Languages Spoken:
      English

      Stephanie Dearmey is a Physician Assistant in Durham, North Carolina. Ms. Dearmey has been practicing medicine for over 26 years and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Gaucher Disease Type 1, and Glycogen Storage Disease Type 3.

      Sujay Kansagra
      Advanced in Pompe Disease
      Advanced in Pompe Disease

      Duke Children's Neurology Creekstone

      4709 Creekstone Dr, 
      Durham, NC 
      Experience:
      19+ years
      Languages Spoken:
      English, Gujarati 
      Offers Telehealth

      I am a pediatric neurologist and the director of the pediatric neurology sleep medicine program. I treat children with a variety of sleep problems, including narcolepsy, obstructive sleep apnea, and difficulty sleeping. My goal is to engage not only the patient but also the family. Oftentimes, these problems are eminently treatable and even preventable, so it’s very gratifying when I see a child who has a treatable medical disorder and see all of the other areas in the child's and family’s life that are positively affected. I believe Duke is the best place in the world to seek care for children. We pride ourselves on cutting-edge technology and research, but also on compassionate care and being able to relate to families and their needs and values. We have access to ongoing research trials, research information, drugs, and other providers in other subspecialties within the Duke system, so it’s a nice comprehensive care program here. Dr. Kansagra is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Alternating Hemiplegia of Childhood, Pompe Disease, West Syndrome, and Epilepsy.

      Advanced in Pompe Disease
      Advanced in Pompe Disease
      2100 Erwin Rd, 
      Durham, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Edward Smith is a Pediatrics provider in Durham, North Carolina. Dr. Smith is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Muscle Atrophy, Hereditary Ataxia, and Delayed Growth. Dr. Smith is currently accepting new patients.

      Advanced in Pompe Disease
      Medical Genetics | Pediatrics
      Advanced in Pompe Disease
      Medical Genetics | Pediatrics

      The Moses H Cone Memorial Hospital Operating Corporation

      1200 N Elm St, 
      Greensboro, NC 
      Languages Spoken:
      English
      Offers Telehealth

      Chad Haldeman is a Medical Genetics specialist and a Pediatrics provider in Greensboro, North Carolina. Dr. Haldeman is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Fabry Disease, Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, and Danon Disease.

      Advanced in Pompe Disease
      Advanced in Pompe Disease

      Wake Forest University Health Sciences

      131 Miller St, 
      Winston Salem, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Michael Cartwright is a Neurologist in Winston Salem, North Carolina. Dr. Cartwright is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Primary Lateral Sclerosis, Mononeuritis Multiplex, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Inclusion Body Myositis. Dr. Cartwright is currently accepting new patients.

      Advanced in Pompe Disease
      Pediatrics | Internal Medicine
      Advanced in Pompe Disease
      Pediatrics | Internal Medicine
      4020 N Roxboro St, 
      Durham, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Kanecia Zimmerman is a primary care provider, practicing in Pediatrics and Internal Medicine in Durham, North Carolina. Dr. Zimmerman is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Premature Infant, Severe Acute Respiratory Syndrome (SARS), COVID-19, Pompe Disease, and Gastrostomy. Dr. Zimmerman is currently accepting new patients.

      Christoph P. Hornik
      Experienced in Pompe Disease
      Experienced in Pompe Disease

      Duke Children's Hospital & Health Center

      2301 Erwin Rd, 
      Durham, NC 
      Experience:
      7+ years
      Languages Spoken:
      English, French, German
      Offers Telehealth

      I am a member of the Duke Pediatric and Congenital Heart Center team, providing critical care services to patients with congenital heart diseases. Dr. Hornik is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Premature Infant, Bronchopulmonary Dysplasia, High Blood Pressure in Infants, and Neonatal Herpes.

      Erin B. Baker
      Experienced in Pompe Disease
      Family Medicine
      Experienced in Pompe Disease
      Family Medicine

      Outer Banks Professional Services, LLC

      604 Amanda St, 
      Manteo, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Erin Baker is a primary care provider, practicing in Family Medicine in Manteo, North Carolina. Dr. Baker is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Compartment Syndrome, Danon Disease, Pompe Disease, and Meningitis. Dr. Baker is currently accepting new patients.

      James B. Allen
      Experienced in Pompe Disease
      Internal Medicine
      Experienced in Pompe Disease
      Internal Medicine

      Duke Health Primary Care Gateway

      157 Professional Park Dr, 
      Mooresville, NC 
      Languages Spoken:
      English
      Offers Telehealth

      James Allen, III, M.D., is an experienced, board-certified internal medicine physician specializing in preventive medicine, disease diagnosis, and health management for adults over 18. With years of internal medicine experience, Dr. Allen is focused on helping patients live healthier lives. Dr. Allen is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Sitosterolemia, High Cholesterol, Hypothyroidism, and Dystrophinopathy.

      Lisa D. Hobson
      Experienced in Pompe Disease
      Experienced in Pompe Disease

      Duke Electromyography Laboratory - Clinic 1L

      40 Duke Medicine Cir, 
      Durham, NC 
      Experience:
      24+ years
      Languages Spoken:
      English
      Offers Telehealth

      Lisa Hobson is a Neurologist in Durham, North Carolina. Dr. Hobson has been practicing medicine for over 24 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, and Andersen-Tawil Syndrome.

      Areeg Hassan
      Experienced in Pompe Disease
      Pediatrics
      Experienced in Pompe Disease
      Pediatrics

      Lenox Baker Children's Hospital

      3000 Erwin Rd, 
      Durham, NC 
      Experience:
      35+ years
      Languages Spoken:
      English, Arabic
      Offers Telehealth

      I find joy and satisfaction in my dedication to the care of children with rare diseases specifically: genetic disorders and inherited disorders of metabolism. Due to many years of training and practice, I have experience involving care of patients with a variety of genetic and metabolic conditions, including but not limited to glycogen storage diseases, fatty acid oxidation defects, mitochondrial disorders, lysosomal storage diseases, urea cycle disorders, organic acidurias, aminoacidopathies, and infantile hepatopathy due to LARS mutations, etc. I enjoy working together with children and their parents, whom I consider an important part of the team. I pursued this field because it gives me great satisfaction and pleasure to see the children with these conditions grow, and the patients and families feel cared for, and not isolated. I love learning about the children's interests, and see that they grow happy and healthy. I think out of the box when there is a challenge that needs to be met for the patient's care and management. Dr. Hassan is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Von Gierke Disease, Mitochondrial Trifunctional Protein Deficiency, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, and Micrognathia.

      Dmitriy M. Niyazov
      Experienced in Pompe Disease
      Medical Genetics
      Experienced in Pompe Disease
      Medical Genetics

      Duke Health Integrated Practice Inc

      40 Duke Medicine Cir, 
      Durham, NC 
      Experience:
      24+ years
      Languages Spoken:
      English, Russian
      Offers Telehealth

      I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Microcephaly.

      Mai K. Elmallah
      Experienced in Pompe Disease
      Experienced in Pompe Disease

      Duke Children's Health Center Pulmonary Clinic

      2301 Erwin Rd, 
      Durham, NC 
      Experience:
      24+ years
      Languages Spoken:
      English, Arabic
      Offers Telehealth

      My team and I help take care of children with cystic fibrosis. Since cystic fibrosis is complex, it requires a team approach. We work with the parents and caregivers of children with cystic fibrosis to provide the best care that will allow these children to live a happy and healthy life. When I am not at work, I enjoy spending time with my husband and three children. Dr. Elmallah is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Spinal Muscular Atrophy Type 2, Duchenne Muscular Dystrophy, and Pompe Disease.

      Wissam Mansour
      Experienced in Pompe Disease
      Pulmonary Medicine | Sleep Medicine
      Experienced in Pompe Disease
      Pulmonary Medicine | Sleep Medicine

      Duke Neurology Morreene Road

      932 Morreene Rd, 
      Durham, NC 
      Experience:
      13+ years
      Languages Spoken:
      English, Arabic, French
      Offers Telehealth

      I am a pulmonologist, intensivist, and sleep medicine specialist, with a particular interest in disorders that impact breathing during sleep, such as sleep apnea and hypoventilation. I also evaluate patients with various pulmonary and sleep conditions. My approach consists of listening carefully to patients and understanding what matters to them. We then come up with an individualized treatment plan together after reviewing all the options. Sleep apnea and other related breathing disorders differ with each individual and so does the response to treatment. I believe in working with patients to help make certain therapies, such as PAP devices, more tolerable and effective, while also considering other options. My goal is to help patients achieve good sleep so they can lead a healthier life. It is very gratifying to me when patients who start treatment report experiencing good sleep for the first time in a while. During my free time, I enjoy watching and practicing sports, traveling, and spending time with my family. Dr. Mansour is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obstructive Sleep Apnea, Exogenous Lipoid Pneumonia, Central Sleep Apnea, and Bronchogenic Cyst.

      Showing 1-20 of 49

      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 North Carolina, US?

      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 North Carolina, US?

      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 North Carolina, US?

      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 North Carolina, US?

      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 North Carolina, US?

      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 North Carolina, US?

      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 North Carolina, US?

      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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