The 20 Best Pompe Disease Doctors Near Me in stanford, CA

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 18 doctor with experience in Pompe Disease near stanford, CA. Of these, 17 are Experienced and 1 are Distinguished.

Location
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18 providers found
    Distinguished in Pompe Disease
    Neurology
    Distinguished in Pompe Disease
    Neurology
    Referral may be required

    Stanford Hospital And Clinics

    965 High St, 
    Palo Alto, CA 
     (1.2 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    John Day is a Neurologist practicing medicine in Palo Alto, California. Dr. Day is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 48 other conditions, according to our data. His clinical expertise encompasses Spinal Muscular Atrophy (SMA), Myotonic Dystrophy Type 2, Myotonic Dystrophy, and Paramyotonia Congenita.

    Experienced in Pompe Disease
    Advanced Heart Failure and Transplant Cardiology | Cardiology
    Experienced in Pompe Disease
    Advanced Heart Failure and Transplant Cardiology | Cardiology
    Referral may be required

    Stanford Health Care

    300 Pasteur Dr, 
    Stanford, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Matthew Wheeler is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist practicing medicine in Stanford, California. Dr. Wheeler is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 39 other conditions, according to our data. His clinical expertise encompasses Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Subvalvular Aortic Stenosis, and Heart Transplant.

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

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto, CA 
     (1.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Beth Kaufman is a Pediatric Cardiologist practicing medicine in Palo Alto, California. Dr. Kaufman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Duchenne Muscular Dystrophy, Cardiomyopathy, Dilated Cardiomyopathy (DCM), Becker Muscular Dystrophy, and Heart Transplant. Dr. Kaufman is currently accepting new patients.

    Learn about our expert tiers
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    Lpch Medical Group Div Of Lucile

    725 Welch Rd, 
    Palo Alto, CA 
     (1.0 miles away)
    Experience:
    18+ years
    Languages Spoken:
    English
    Offers Telehealth

    Chung Lee is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Palo Alto, California. She has been practicing medicine for over 18 years. Dr. Lee is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, Maple Syrup Urine Disease, and Carnitine Palmitoyltransferase 2 Deficiency.

    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    Lpch Medical Group Div Of Lucile

    725 Welch Rd, 
    Palo Alto, CA 
     (1.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Gregory Enns is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Palo Alto, California. Dr. Enns is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 54 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Methylmalonic Acidemia, Arginase Deficiency, and Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency. Dr. Enns is currently accepting new patients.

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

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto,, CA 
     (1.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Jenna Klotz is a Neurologist practicing medicine in Palo Alto,, California. Dr. Klotz is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 34 other conditions, according to our data. Her clinical expertise encompasses Dysferlinopathy, Duchenne Muscular Dystrophy, Seizures, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+). Dr. Klotz is currently accepting new patients.

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

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto, CA 
     (1.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Mark Chubb is a Pediatric Cardiologist practicing medicine in Palo Alto, California. Dr. Chubb is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 44 other conditions, according to our data. His clinical expertise encompasses Tetralogy of Fallot, Williams Syndrome, Wolff-Parkinson-White Syndrome, and Dextrocardia with Situs Inversus. Dr. Chubb is currently accepting new patients.

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

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto,, CA 
     (1.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Elizabeth Profita is a Pediatric Cardiologist practicing medicine in Palo Alto,, California. Dr. Profita is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Mitral Atresia, Hypoplastic Left Heart Syndrome (HLHS), Myocarditis, Cardiomyopathy, and Heart Transplant. Dr. Profita is currently accepting new patients.

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

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto,, CA 
     (1.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Heather Giacone is a Pediatric Cardiologist practicing medicine in Palo Alto,, California. Dr. Giacone is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 47 other conditions, according to our data. Her clinical expertise encompasses Williams Syndrome, Tetralogy of Fallot, Wolff-Parkinson-White Syndrome, Situs Inversus, and Pacemaker Implantation. Dr. Giacone is currently accepting new patients.

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

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto,, CA 
     (1.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    William Goodyer is a Pediatric Cardiologist practicing medicine in Palo Alto,, California. Dr. Goodyer is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Tetralogy of Fallot, Congenital Heart Disease (CHD), Wolff-Parkinson-White Syndrome, and Congenital Heart Block. Dr. Goodyer is currently accepting new patients.

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

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto, CA 
     (1.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    David Rosenthal is a Pediatric Cardiologist practicing medicine in Palo Alto, California. Dr. Rosenthal is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Dilated Cardiomyopathy (DCM), Congenital Heart Disease (CHD), Cardiomyopathy, and Heart Transplant. Dr. Rosenthal is currently accepting new patients.

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

    Lucille Packard Children's Hospital 030962

    770 Welch Rd, 
    Palo Alto, CA 
     (1.1 miles away)
    Experience:
    18+ years
    Languages Spoken:
    English

    Diana Chen is a Pediatric Pulmonologist practicing medicine in Palo Alto, California. She has been practicing medicine for over 18 years. Dr. Chen is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Ciliary Dyskinesia-Bronchiectasis, Primary Ciliary Dyskinesia (PCD), Duchenne Muscular Dystrophy, and Congenital Bronchobiliary Fistula.

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

    Outpatient Neurologic Rehabilitation Program

    213 Quarry Rd, 
    Palo Alto, CA 
     (1.2 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Srikanth Muppidi is a Neurologist practicing medicine in Palo Alto, California. Dr. Muppidi is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Familial Dysautonomia, Orthostatic Hypotension, and Low Blood Pressure.

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

    Stanford Hospital And Clinics

    965 High St, 
    Palo Alto, CA 
     (1.2 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Jacinda Sampson is a Neurologist practicing medicine in Palo Alto, California. Dr. Sampson is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 74 other conditions, according to our data. Her clinical expertise encompasses Paramyotonia Congenita, Myotonic Dystrophy Type 2, Myotonic Dystrophy, Oculodentodigital Dysplasia, and Thymectomy.

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

    Stanford Hospital And Clinics

    965 High St, 
    Palo Alto, CA 
     (1.2 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Neelam Goyal is a Neurologist practicing medicine in Palo Alto, California. Dr. Goyal is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 39 other conditions, according to our data. Her clinical expertise encompasses Myasthenia Gravis, Inclusion Body Myositis, Spinal Muscular Atrophy (SMA), and Spinal and Bulbar Muscular Atrophy.

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

    Betty Irene Moore Children's Heart Center

    725 Welch Rd Ste 120, 
    Palo Alto,, CA 
     (3.5 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Christopher Almond is a Pediatric Cardiologist practicing medicine in Palo Alto,, California. Dr. Almond 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 Heart Failure, Congenital Heart Disease (CHD), Double Inlet Left Ventricle, Mitral Atresia, and Heart Transplant. Dr. Almond is currently accepting new patients.

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

    Betty Irene Moore Children's Heart Center

    725 Welch Rd Ste 120, 
    Palo Alto,, CA 
     (3.5 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Seth Hollander is a Pediatric Cardiologist practicing medicine in Palo Alto,, California. Dr. Hollander is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Dilated Cardiomyopathy (DCM), Cardiomyopathy, Duchenne Muscular Dystrophy, and Heart Transplant. Dr. Hollander is currently accepting new patients.

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

    Primary Care Cuesta-El Camino Health

    2204 Grant Rd Ste 203, 
    Mountain View, CA 
     (5.4 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Mariam Manoukian is a primary care provider, practicing in Internal Medicine in Mountain View, California. Dr. Manoukian is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Cluster Headache, Diabetic Hyperglycemic Hyperosmolar Syndrome, Hypothyroidism, and Vitamin D Deficiency.

    Showing 1-18 of 18

    Last Updated: 09/26/2026

    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 stanford, CA?

    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 stanford, CA?

    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 stanford, CA?

    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 stanford, CA?

    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 stanford, CA?

    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 stanford, CA?

    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 stanford, CA?

    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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