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

Find the Top Pompe Disease Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 114 doctor with experience in Pompe Disease near San Jose, CA. Of these, 99 are Experienced, 10 are Advanced, 3 are Elite and 2 are Distinguished.

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114 providers found
    Elite in Pompe Disease
    Medical Genetics
    Elite in Pompe Disease
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English

    Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

    Elite in Pompe Disease
    Elite in Pompe Disease

    UC Irvine Medical Center

    200 S Manchester Ave Ste 110, 
    Orange, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Tahseen Mozaffar is a Neurologist 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 31 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.

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

    Uc Regents Uci Dept Of Pediatrics

    101 The City Dr S, 
    Orange, CA 
    Languages Spoken:
    English
    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 14 other conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT).

    Learn about our expert tiers
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics

    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 Biochemical Genetic and Medical Genetics And Genomics Clin Genetics & Genomic. Dr. Martin is currently accepting new patients.

    Experienced in Pompe Disease
    Advanced Heart Failure and Transplant Cardiology | Cardiology
    Experienced in Pompe Disease
    Advanced Heart Failure and Transplant Cardiology | Cardiology

    Regents Of The University Of California

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

    Eric Adler is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist practicing medicine in San Diego, California. Dr. Adler is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Danon Disease, Cardiomyopathy, Heart Failure, Heart Transplant, and Gastrostomy.

    Distinguished in Pompe Disease
    General Practice
    Distinguished in Pompe Disease
    General Practice

    Hung K. DO DDS Inc.

    9561 Laguna Springs Dr Ste 100, 
    Elk Grove, CA 
    Languages Spoken:
    English

    Hung Do is a primary care provider, practicing in General Practice in Elk Grove, California. Dr. Do is rated as a Distinguished 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, Fabry Disease, Sialuria, and Sialic Acid Storage Disease.

    Advanced in Pompe Disease
    Intensive Care Medicine
    Advanced in Pompe Disease
    Intensive Care Medicine

    Torrance Memorial Physician Network Pulmonary & Sleep-Torrance

    2841 Lomita Blvd Ste 200, 
    Torrance, CA 
    Languages Spoken:
    English
    Offers Telehealth

    John Abe is an Intensive Care Medicine provider practicing medicine in Torrance, California. Dr. Abe is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), Bronchiectasis, Lung Nodules, and Advanced Bronchoscopy.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology
    505 South Main Street, Suite 600, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Nafiz Kiciman is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Kiciman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Patent Ductus Arteriosus, Ventricular Septal Defects, Turner Syndrome, and Perrault Syndrome. Dr. Kiciman is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English

    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 9 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Dilated Cardiomyopathy (DCM), Congenital Heart Disease (CHD), Cardiomyopathy, and Heart Transplant.

    Experienced in Pompe Disease
    Radiology | Neuroradiology
    Experienced in Pompe Disease
    Radiology | Neuroradiology

    Imaging Associates Of Indiana, PC

    350 Grandview Rd, 
    Sebastopol, CA 
    Languages Spoken:
    English
    Offers Telehealth

    David Carrington is a Radiologist and a Neuroradiologist practicing medicine in Sebastopol, California. Dr. Carrington 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 Brain Aneurysm, Stroke, Subarachnoid Hemorrhage, Stent Placement, and Transmyocardial Revascularization.

    Advanced in Pompe Disease
    Advanced in Pompe Disease

    UC Irvine Medical Center

    200 S Manchester Ave Ste 110, 
    Orange, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Namita Goyal is a Neurologist 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, Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Primary Lateral Sclerosis. Dr. Goyal is board certified in CA State Medical License 2012 - 2024 and MA State Medical License 2006 - 2023.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English

    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 19 other conditions, according to our data. Her clinical expertise encompasses Duchenne Muscular Dystrophy, Cardiomyopathy, Dilated Cardiomyopathy (DCM), Becker Muscular Dystrophy, and Heart Transplant.

    Experienced in Pompe Disease
    Medical Genetics
    Experienced in Pompe Disease
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Cristel Chapel is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chapel is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses CLN4 Disease, CLN2 Disease, CLN3 Disease, and CLN5 Disease. Dr. Chapel is currently accepting new patients.

    Experienced in Pompe Disease
    Medical Genetics
    Experienced in Pompe Disease
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 156 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Arginase Deficiency, and Urea Cycle Disorders (UCD). Dr. Chang is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology
    505 South Main Street, Suite 600, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Anjan Batra is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Batra is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 131 other conditions, according to our data. His clinical expertise encompasses Arrhythmias, Paroxysmal Supraventricular Tachycardia (PSVT), Congenital Heart Block, Congenital Heart Disease (CHD), and Cardiac Ablation. Dr. Batra is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Anthony Mccanta is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Mccanta is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 150 other conditions, according to our data. His clinical expertise encompasses Congenital Heart Disease (CHD), Tetralogy of Fallot, Arrhythmias, Patent Ductus Arteriosus, and Cardiac Ablation. Dr. Mccanta is currently accepting new patients.

    Experienced in Pompe Disease
    Sleep Medicine
    Experienced in Pompe Disease
    Sleep Medicine

    Stanford Hospital And Clinics

    300 Pasteur Dr, 
    Stanford, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Michelle Cao is a Sleep Medicine provider practicing medicine in Stanford, California. Dr. Cao 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 Hereditary Ataxia, Obstructive Sleep Apnea, Drowsiness, and Excessive Daytime Sleepiness.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Michael Recto is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Recto is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 138 other conditions, according to our data. His clinical expertise encompasses Patent Ductus Arteriosus, Ventricular Septal Defects, Pulmonary Atresia with Ventricular Septal Defect, and Dextrocardia with Situs Inversus. Dr. Recto is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Otolaryngology
    Experienced in Pompe Disease
    Pediatric Otolaryngology
    1010 West La Veta Avenue, Suite 640, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Nguyen Pham is a Pediatric Otolaryngologist practicing medicine in Orange, California. Dr. Pham is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Velopharyngeal Insufficiency, Syngnathia Cleft Palate, Autosomal Cleft Palate, and Deafness Craniofacial Syndrome. Dr. Pham is currently accepting new patients.

    Experienced in Pompe Disease
    Neurology
    Experienced in Pompe Disease
    Neurology

    Stanford Rehabilitation Clinic

    730 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English

    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+).

    Showing 1-20 of 114

    Last Updated: 04/28/2026

    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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