The 20 Best Pompe Disease Doctors Near Me in Gainesville, FL

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/19/2026

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MediFind found 42 doctor with experience in Pompe Disease near Gainesville, FL. Of these, 38 are Experienced, 2 are Advanced and 2 are Elite.

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42 providers found
    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required

    UF Health Pediatric Infusion Center & Specialties Clinic

    1600 SW Archer Rd Fl Fourth, 
    Gainesville, FL 
    Languages Spoken:
    English
    Accepting New Patients

    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 6 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Hereditary Ataxia, Hypotonia, Infantile Neutropenia, and Bone Marrow Aspiration. Dr. Byrne is currently accepting new patients in some locations.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required

    Uf Health Medical Lab-Shands Hospital

    1600 SW Archer Rd, 
    Gainesville, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Shelley Collins is a Pediatrics provider practicing medicine in Gainesville, Florida. Dr. Collins is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Pompe Disease. Dr. Collins is currently accepting new patients.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required

    Rosabella Shek M.D. P.A.

    5857B 21st Ave W, 
    Bradenton, FL 
    Languages Spoken:
    English

    Frank Loh is a Neurologist practicing medicine in Bradenton, Florida. Dr. Loh is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Danon Disease, Pompe Disease, Cerebellar Degeneration, and Chronic Inflammatory Demyelinating Polyneuropathy.

    Learn about our expert tiers
    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Experience:
    10+ years
    Languages Spoken:
    English, Arabic
    Accepting New Patients

    Omer Hamid is a Neurologist practicing medicine in Orlando, Florida. He has been practicing medicine for over 10 years. Dr. Hamid is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 61 other conditions, according to our data. His clinical expertise encompasses Amyotonia Congenita, Congenital Myasthenic Syndrome, Dysferlinopathy, and Duchenne Muscular Dystrophy. Dr. Hamid is board certified in American Board Of Psychiatry & Neurology. Dr. Hamid is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology
    Referral may be required

    Nemours Children's Health, Lake Mary

    3300 W. Lake Mary Blvd., Suite 100, 
    Lake Mary, FL 
    Languages Spoken:
    English, Farsi, German, Turkish
    Accepting New Patients

    Bahram Kakavand is a Pediatric Cardiologist practicing medicine in Lake Mary, Florida. Dr. Kakavand is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 38 other conditions, according to our data. His clinical expertise encompasses Ectopic Heartbeat, Fainting, Inappropriate Sinus Tachycardia (IST), and Familial Ventricular Tachycardia. Dr. Kakavand is board certified in American Board Of Pediatrics. Dr. Kakavand is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology | Pediatrics | Cardiac Electrophysiology
    Experienced in Pompe Disease
    Pediatric Cardiology | Pediatrics | Cardiac Electrophysiology
    Referral may be required

    BMG Pediatric Cardiology And Adult Congenital Heart At St. Petersburg

    560 Jackson St N, Ste 140, 
    Saint Petersburg, FL 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Jorge Mccormack is a Pediatric Cardiologist and a Pediatrics provider practicing medicine in Saint Petersburg, Florida. Dr. Mccormack is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Congenital Heart Block, Heart Murmurs, Long QT Syndrome, and Wolff-Parkinson-White Syndrome. Dr. Mccormack is board certified in Pediatrics, Pediatric Cardiology, AB Pediatrics - Pediatrics, American Board Of Pediatrics, and AB Pediatrics (Pediatric Cardiology). Dr. Mccormack is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Languages Spoken:
    English, Vietnamese
    Accepting New Patients

    Thieu Nguyen is a Cardiologist practicing medicine in Orlando, Florida. Dr. Nguyen is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Aortopulmonary Window, Aorta-Pulmonary Artery Fistula, Ventricular Septal Defects, and Heart Murmurs. Dr. Nguyen is board certified in American Board Of Pediatrics. Dr. Nguyen is currently accepting new patients.

    Experienced in Pompe Disease
    Cardiology
    Experienced in Pompe Disease
    Cardiology
    Referral may be required

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Languages Spoken:
    English, Arabic, Turkish
    Accepting New Patients

    Dima Turpin is a Cardiologist practicing medicine in Orlando, Florida. Dr. Turpin is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Aortopulmonary Window, Aorta-Pulmonary Artery Fistula, Interrupted Aortic Arch, and Patent Ductus Arteriosus. Dr. Turpin is board certified in American Board Of Pediatrics. Dr. Turpin is currently accepting new patients.

    Experienced in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Experienced in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Referral may be required

    Orlando Health Neuroscience Institute – Downtown

    76 W. Underwood St., 2nd Floor, 
    Orlando, FL 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Vahid Tohidi is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Orlando, Florida. Dr. Tohidi is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Peripheral Neuropathy, Spinal Muscular Atrophy Type 3, Spinal and Bulbar Muscular Atrophy, and Spinal Muscular Atrophy (SMA). Dr. Tohidi is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Nemours Children's Health, Lakeland

    1324 Lakeland Hills Blvd., Lakeland Regional Health Medical Center, 
    Lakeland, FL 
    Languages Spoken:
    English

    Cristan Doggette is a Cardiologist practicing medicine in Lakeland, Florida. Dr. Doggette is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Chorea-Acanthocytosis, Apo A-I Deficiency, Familial HDL Deficiency, and Hypolipoproteinemia. Dr. Doggette is board certified in Pediatric Nursing Certification Board.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Orlando Health Arnold Palmer Hospital For Children Division Of Genetics - Downtown Orlando

    60 W. Gore St., 2nd Floor, 
    Orlando, FL 
    Languages Spoken:
    English, Gujarati , Hindi, Marathi
    Accepting New Patients
    Offers Telehealth

    Aditi Dagli is a Pediatrics provider practicing medicine in Orlando, Florida. Dr. Dagli is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Early Infantile Epileptic Encephalopathy, Ehlers-Danlos Syndrome (EDS), Autism Spectrum Disorder, and CHARGE Syndrome. Dr. Dagli is board certified in American Board Of Medical Genetics-Clin Gen MD. Dr. Dagli is currently accepting new patients.

    Experienced in Pompe Disease
    Medical Genetics
    Experienced in Pompe Disease
    Medical Genetics
    Referral may be required
    1601 Northwest 12th Avenue, 
    Miami, FL 
    Languages Spoken:
    English, Hebrew, Portuguese, Spanish
    Accepting New Patients
    Offers Telehealth

    Deborah Barbouth is a Medical Genetics provider practicing medicine in Miami, Florida. Dr. Barbouth is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Gaucher Disease Type 1, Gaucher Disease, Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, and Splenectomy. Dr. Barbouth is currently accepting new patients.

    Experienced in Pompe Disease
    Pulmonary Medicine
    Experienced in Pompe Disease
    Pulmonary Medicine
    Referral may be required

    Nemours Children's Health, Downtown Orlando

    1717 S. Orange Ave., 
    Orlando, FL 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Aledie Nazario is a Pulmonary Medicine provider practicing medicine in Orlando, Florida. Dr. Nazario is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Asthma, Bronchogenic Cyst, Vocal Cord Dysfunction, and Pectus Excavatum. Dr. Nazario is board certified in American Board Of Pediatrics. Dr. Nazario is currently accepting new patients.

    Experienced in Pompe Disease
    Pulmonary Medicine
    Experienced in Pompe Disease
    Pulmonary Medicine
    Referral may be required

    Nemours Children's Health, Lake Nona Boulevard

    6718 Lake Nona Blvd., Suite 280, 
    Orlando, FL 
    Languages Spoken:
    English, Malayalam
    Accepting New Patients

    Christie Cherian is a Pulmonary Medicine provider practicing medicine in Orlando, Florida. Dr. Cherian is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Asthma, Pectus Excavatum, Congenital Bronchobiliary Fistula, and Mounier-Kuhn Syndrome. Dr. Cherian is board certified in American Board Of Pediatrics. Dr. Cherian is currently accepting new patients.

    Experienced in Pompe Disease
    Internal Medicine
    Experienced in Pompe Disease
    Internal Medicine

    Uf Health Hematology And Oncology-North

    15255 Max Leggett Pkwy Ste 6000, 
    Jacksonville, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Walter Quan is a primary care provider, practicing in Internal Medicine in Jacksonville, Florida. Dr. Quan is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Follicular Lymphoma, Burkitt Lymphoma, Diffuse Large B-Cell Lymphoma (DLBCL), and Multiple Myeloma. Dr. Quan is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Johns Hopkins All Children's Outpatient Care, St. Petersburg

    601 5th Street South, Suite 520, Suite 520, 
    Saint Petersburg, FL 
    Languages Spoken:
    English, Turkish
    Accepting New Patients
    Offers Telehealth

    Meral Gunay-Aygun is a Pediatrics provider practicing medicine in Saint Petersburg, Florida. Dr. Gunay-Aygun is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Fabry Disease, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Urea Cycle Disorders (UCD). Dr. Gunay-Aygun is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics. Dr. Gunay-Aygun is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Orlando Health Arnold Palmer Hospital For Children Division Of Genetics - Downtown Orlando

    60 W. Gore St., 2nd Floor, 
    Orlando, FL 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Patricia Wheeler is a Pediatrics provider practicing medicine in Orlando, Florida. Dr. Wheeler is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Increased Head Circumference, Microcephaly, Micrognathia, and Hypotonia. Dr. Wheeler is board certified in American Board Of Medical Genetics and American Board Of Pediatrics. Dr. Wheeler is currently accepting new patients.

    Experienced in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Experienced in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Referral may be required
    1150 Northwest 14th Street, 
    Miami, FL 
    Languages Spoken:
    English, Portuguese, Spanish
    Accepting New Patients
    Offers Telehealth

    Mario Saporta is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Miami, Florida. Dr. Saporta is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Charcot-Marie-Tooth Disease, Limb-Girdle Muscular Dystrophy Type 2A, Dystrophinopathy, and Limb-Girdle Muscular Dystrophy Type 1A. Dr. Saporta is currently accepting new patients.

    Psychiatry | Sleep Medicine | Child and Adolescent Psychiatry
    Psychiatry | Sleep Medicine | Child and Adolescent Psychiatry
    Referral may be required

    Gregg L. Friedman MD

    2500 E Hallandale Beach Blvd, Suite 702, 
    Hallandale Beach, FL 
    Experience:
    37+ years
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Gregg L. Friedman MD is a Board Certified Psychiatrist with over 35 years experience . Dr. Friedman MD is rated as undefined provider by MediFind in the treatment of Pompe Disease. His clinical expertise encompasses Schizophrenia, Schizoaffective Disorder, Bipolar Disorder (BPD), and Major Depression. Dr. Friedman MD is board certified in American Board Of Psychiatry And Neurology. Dr. Friedman MD is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Uf Health Neuromedicine-Fixel Institute

    3009 SW Williston Rd, 
    Gainesville, FL 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Sub Subramony is a Neurologist practicing medicine in Gainesville, Florida. Dr. Subramony is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Hereditary Ataxia, Spinocerebellar Ataxia, Friedreich Ataxia, and Drug Induced Dyskinesia. Dr. Subramony is currently accepting new patients.

    Showing 1-20 of 42

    Last Updated: 09/19/2026

    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 Gainesville, FL?

    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 Gainesville, FL?

    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 Gainesville, FL?

    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 Gainesville, FL?

    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 Gainesville, FL?

    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 Gainesville, FL?

    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 Gainesville, FL?

    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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