The 20 Best Pompe Disease Doctors Near Me in San Jose, CA

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 99 doctor with experience in Pompe Disease near San Jose, CA. Of these, 85 are Experienced, 10 are Advanced, 2 are Distinguished and 2 are Elite.

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99 providers found
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    UC Irvine Medical Center

    101 The City Drive South, Building 30, 
    Orange, CA 
    Languages Spoken:
    English, Greek, Hindi
    Offers Telehealth

    Virginia Kimonis is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Orange, California. Dr. Kimonis is rated as an Elite 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 Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.

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

    UCI Health ALS & Neuromuscular Center

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

    Tahseen Mozaffar is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Orange, California. Dr. Mozaffar is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Inclusion Body Myositis, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy. Dr. Mozaffar is board certified in Board Certification In Neurology, 1996-2026, Board Certification In Neuromuscular Medicine, 2008-2028, and Board Certification In Clinical Neuromuscular Pathology, 2015 - 2025. Dr. Mozaffar is currently accepting new patients.

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

    UC Davis Medical Center MIND Institute

    2825 50th St, 
    Sacramento, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Madelena Martin is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Sacramento, California. Dr. Martin is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Danon Disease, Pompe Disease, Phenylketonuria (PKU), and Fabry Disease. Dr. Martin is board certified in Medical Genetics And Genomics Clin Genetics & Genomic and Medical Genetics And Genomics Clin Biochemical Genetic. Dr. Martin is currently accepting new patients.

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

    Stanford Hospital And Clinics

    965 High St, 
    Palo Alto, CA 
    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.

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

    UCI Health ALS & Neuromuscular Center

    200 South Manchester Avenue, Suite 110, 
    Orange, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Namita Goyal is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Orange, California. Dr. Goyal is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Inclusion Body Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Myositis, and Primary Lateral Sclerosis. Dr. Goyal is board certified in CA State Medical License 2012 - 2024 and MA State Medical License 2006 - 2023.

    Advanced in Pompe Disease
    Internal Medicine
    Advanced in Pompe Disease
    Internal Medicine
    2235 Douglas Blvd., Suite 510, 
    Roseville, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Thomas Hopkins is a primary care provider, practicing in Internal Medicine in Roseville, California. Dr. Hopkins is rated as an Advanced 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 Danon Disease, Pompe Disease, Obesity, and Familial Hypertension. Dr. Hopkins is board certified in Not ABMS Specialty and Internal Medicine - Board Certified . Dr. Hopkins is currently accepting new patients.

    Advanced in Pompe Disease
    Medical Genetics
    Advanced in Pompe Disease
    Medical Genetics
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome). Dr. Wang is currently accepting new patients.

    Advanced in Pompe Disease
    Medical Genetics
    Advanced in Pompe Disease
    Medical Genetics
    Referral may be required
    1201 W La Veta Ave, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Walla Al-Hertani is a Medical Genetics provider practicing medicine in Orange, California. Dr. Al-Hertani is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 62 other conditions, according to our data. Her clinical expertise encompasses Von Gierke Disease, Classic Galactosemia, Andersen Disease, and Glycogen Storage Disease Type 0. Dr. Al-Hertani is currently accepting new patients.

    Advanced in Pompe Disease
    Internal Medicine
    Advanced in Pompe Disease
    Internal Medicine

    Magdi Elsaadi, M.D. A Professional Medical Corporation

    1738 N Waterman Ave, 
    San Bernardino, CA 
    Experience:
    44+ years
    Languages Spoken:
    English
    Offers Telehealth

    Magdi Elsaadi is a primary care provider, practicing in Internal Medicine in San Bernardino, California. He has been practicing medicine for over 44 years. Dr. Elsaadi 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 Pompe Disease, Danon Disease, Type 2 Diabetes (T2D), and High Cholesterol. Dr. Elsaadi is board certified in American Board Of Internal Medicine.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    2825 50th St, M.i.n.d. Institute, 
    Sacramento, CA 
    Languages Spoken:
    English

    Simeon Boyadjiev-Boyd is a Pediatrics provider practicing medicine in Sacramento, California. Dr. Boyadjiev-Boyd is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Pompe Disease.

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

    Uc Regents

    10833 Le Conte Ave, 
    Los Angeles, CA 
    Languages Spoken:
    English, Hindi, Italian, Spanish
    Accepting New Patients
    Offers Telehealth

    Nicola Longo is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Los Angeles, California. Dr. Longo is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Gaucher Disease Type 3, and Gaucher Disease Type 2. Dr. Longo is currently accepting new patients.

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

    University Of California San Francisco

    2330 Post St, 
    San Francisco, CA 
    Languages Spoken:
    English, Arabic, French
    Accepting New Patients
    Offers Telehealth

    Hind Al Saif is a Medical Genetics specialist and a Pediatrics provider practicing medicine in San Francisco, California. Dr. Al Saif is rated as an Advanced 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 Pompe Disease, Danon Disease, Oculocutaneous Albinism, and Phenylketonuria (PKU). Dr. Al Saif is currently accepting new patients.

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

    Vincent D Hamilton MD A Medical Corporation

    870 Shasta St Ste 400, 
    Yuba City, CA 
    Languages Spoken:
    English

    Wenchiang Han is a Neurologist practicing medicine in Yuba City, California. Dr. Han is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Memory Loss, Epilepsy, Seizures, and Migraine.

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

    Regents Of The University Of California

    200 W Arbor Dr, 
    San Diego, CA 
    Languages Spoken:
    English

    Bruce Barshop is a Medical Genetics provider practicing medicine in San Diego, California. Dr. Barshop is rated as an Advanced 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 Fabry Disease, Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, and X-Linked Creatine Deficiency.

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

    Epilepsy Center

    400 Parnassus Ave., Eighth Floor, 
    San Francisco, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Manu Hegde is a Neurologist practicing medicine in San Francisco, California. Dr. Hegde 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 Seizures, Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE), Partial Seizure, Limb-Girdle Muscular Dystrophy, and Deep Brain Stimulation. Dr. Hegde is board certified in American Board Of Psychiatry And Neurology., Epilepsy and American Board Of Psychiatry And Neurology., Neurology. Dr. Hegde is currently accepting new patients.

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

    UCLA Health Westwood Neurology

    300 UCLA Medical Plz Ste B200, 
    Los Angeles, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Perry Shieh is a Neurologist practicing medicine in Los Angeles, California. Dr. Shieh is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Spinal Muscular Atrophy (SMA), and Tubular Aggregate Myopathy.

    Experienced in Pompe Disease
    Pediatric Gastroenterology | Gastroenterology
    Experienced in Pompe Disease
    Pediatric Gastroenterology | Gastroenterology
    Referral may be required

    UCSF Benioff Children's Hospital Gastroenterology Clinic

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

    Paul Harmatz is a Gastroenterologist and a Pediatric Gastroenterologist practicing medicine in Oakland, CA. Dr. Harmatz is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome). Dr. Harmatz is board certified in American Board Of Pediatrics.

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

    UC Irvine Medical Center

    101 The City Drive South, 
    Orange, CA 
    Languages Spoken:
    English

    John Weiss is a Neurologist practicing medicine in Orange, California. Dr. Weiss is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Pompe Disease, and Frontotemporal Dementia. Dr. Weiss is board certified in American Board Of Psychiatry And Neurology - Neurology.

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

    UCI Health Chao Family Comprehensive Digestive Disease Center

    101 The City Drive South, Building 22C, 
    Orange, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Angela Myers is a Medical Genetics provider practicing medicine in Orange, California. Dr. Myers 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 Bowen-Conradi Syndrome, Costello Syndrome, Microcephaly Deafness Syndrome, and RASopathies.

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

    Peripheral Nerve Center

    400 Parnassus Ave., Eighth Floor, 
    San Francisco, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jeffrey Ralph is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in San Francisco, California. Dr. Ralph is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Peripheral Neuropathy, Guillain-Barre Syndrome, Miller-Fisher Syndrome, and Chronic Polyradiculoneuritis. Dr. Ralph is board certified in American Board Of Psychiatry And Neurology., Neuromuscular Medicine and American Board Of Psychiatry And Neurology., Neurology. Dr. Ralph is currently accepting new patients.

    Showing 1-20 of 99

    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 San Jose, 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 San Jose, 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 San Jose, 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 San Jose, 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 San Jose, 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 San Jose, 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 San Jose, 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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