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    Last Updated: 10/30/2025

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    MediFind found 33 doctor with experience in Pompe Disease near Philadelphia, PA. Of these, 20 are Experienced, 4 are Advanced and 3 are Distinguished.

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    LocationClose
    33 providers found
      Distinguished in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine
      Distinguished in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine
      3400 Spruce St, 3 Ravdin Building, Suite F, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Yasmine Wasfi is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Philadelphia, Pennsylvania. Dr. Wasfi is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Plaque Psoriasis, and Pulmonary Alveolar Proteinosis.

      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      Perelman Center For Advanced Medicine South Pavilion, 2nd Floor

      3400 Civic Center Boulevard, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Chafic Karam is a Neurologist in Philadelphia, Pennsylvania. Dr. Karam is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Transthyretin Amyloidosis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, Multifocal Motor Neuropathy, and Laminectomy. Dr. Karam is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Sharlene M. Day
      Experienced in Pompe Disease
      Experienced in Pompe Disease

      Penn Heart And Vascular Center

      3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Sharlene Day is a Cardiologist in Philadelphia, Pennsylvania. Dr. Day is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Orchiectomy, and Heart Transplant. Dr. Day is currently accepting new patients.

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

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Classic Galactosemia, Urea Cycle Disorders (UCD), Galactose Epimerase Deficiency, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

      Advanced in Pompe Disease
      Advanced in Pompe Disease

      Penn Neuroscience Center - Neurology

      3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Paul Mcintosh is a Neurologist in Philadelphia, Pennsylvania. Dr. Mcintosh is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Foot Drop, Peripheral Neuropathy, and Facioscapulohumeral Muscular Dystrophy (FSHD). Dr. Mcintosh is currently accepting new patients.

      Advanced in Pompe Disease
      Neurology
      Advanced in Pompe Disease
      Neurology

      Penn Neuroscience Center - Neurology

      3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Colin Quinn is a Neurologist in Philadelphia, Pennsylvania. Dr. Quinn is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Inclusion Body Myositis, Progressive Hemifacial Atrophy, and Gastrostomy. Dr. Quinn is currently accepting new patients.

      Advanced in Pompe Disease
      Medical Genetics
      Advanced in Pompe Disease
      Medical Genetics

      Penn Translational Medicine And Human Genetics

      3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Staci Kallish is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Kallish is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis. Dr. Kallish is currently accepting new patients.

      Pulmonary Medicine
      Pulmonary Medicine

      Harron Lung Center Perelman

      3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jason Ackrivo is a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Dr. Ackrivo is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pulmonary Aspergilloma, Aspergillosis, Chronic Obstructive Pulmonary Disease (COPD), and Lung Metastases. Dr. Ackrivo is currently accepting new patients.

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

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Rebecca Ahrens-Nicklas is a Pediatrics specialist and a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Ahrens-Nicklas is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Noonan Syndrome.

      Pulmonary Medicine | Sleep Medicine
      Pulmonary Medicine | Sleep Medicine

      Harron Lung Center University City

      3737 Market Street, 10th Floor, 
      Philadelphia, PA 
       (1.7 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Arshad Wani is a Sleep Medicine specialist and a Pulmonary Medicine provider in Philadelphia, Pennsylvania. His top areas of expertise are Simple Pulmonary Eosinophilia, Eosinophilic Pneumonia, Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), and Gastrostomy. Dr. Wani is currently accepting new patients.

      Experienced in Pompe Disease
      Intensive Care Medicine | Pediatrics
      Experienced in Pompe Disease
      Intensive Care Medicine | Pediatrics
      Philadelphia, PA 
       (0.1 miles away)
      Experience:
      17+ years
      Languages Spoken:
      English
      Accepting New Patients

      Asaad Beshish is an Intensive Care Medicine specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Beshish has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are High Blood Pressure in Infants, DiGeorge Syndrome, Pulmonary Hypertension, and Cerebral Hypoxia. Dr. Beshish is currently accepting new patients.

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

      Penn Personalized Care - Rosemary Kearney, MD

      800 Walnut Street, 17th Floor, 
      Philadelphia, PA 
       (0.6 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Rosemary Kearney is a primary care provider, practicing in Internal Medicine in Philadelphia, Pennsylvania. Dr. Kearney is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Enlarged Prostate (BPH), Chronic Cough, Danon Disease, and Pompe Disease.

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

      Penn Personalized Care - Gary W. Dorshimer, MD

      800 Walnut Street, 17th Floor, 
      Philadelphia, PA 
       (0.6 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Gary Dorshimer is a primary care provider, practicing in Internal Medicine in Philadelphia, Pennsylvania. Dr. Dorshimer is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Sitosterolemia, Diffuse Idiopathic Skeletal Hyperostosis, Crohn's Disease, High Cholesterol, and Ureteroscopy.

      Experienced in Pompe Disease
      Pediatric Cardiology | Pediatrics
      Experienced in Pompe Disease
      Pediatric Cardiology | Pediatrics

      Radiology Associates Of Children's Hospital

      34 Th St And Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Mark Fogel is a Pediatric Cardiologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Fogel is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Tetralogy of Fallot, Pediatric Myocarditis, Pulmonary Valve Stenosis, Congenital Coronary Artery Malformation, and Endoscopy.

      Experienced in Pompe Disease
      Pulmonary Medicine
      Experienced in Pompe Disease
      Pulmonary Medicine

      Harron Lung Center Perelman

      3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Mary Porteous is a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Dr. Porteous is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Interstitial Lung Disease, Acute Interstitial Pneumonia, Pulmonary Fibrosis, Pneumonia, and Lung Transplant. Dr. Porteous is currently accepting new patients.

      Pulmonary Medicine
      Pulmonary Medicine

      Harron Lung Center Perelman

      3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      John Hansen is a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Dr. Hansen is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Nontuberculous Mycobacterial Lung Disease, Chronic Obstructive Pulmonary Disease (COPD), Lung Metastases, and Acute Interstitial Pneumonia. Dr. Hansen is currently accepting new patients.

      Pulmonary Medicine
      Pulmonary Medicine

      Harron Lung Center Perelman

      3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Michael Rey is a Pulmonary Medicine provider in Philadelphia, Pennsylvania. His top areas of expertise are Bronchiectasis, Cystic Fibrosis, Secondary Immunodeficiency (SID), and Nontuberculous Mycobacterial Lung Disease. Dr. Rey is currently accepting new patients.

      Pulmonary Medicine
      Pulmonary Medicine

      Harron Lung Center Perelman

      3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Gulus Emre is a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Her top areas of expertise are Acute Respiratory Distress Syndrome (ARDS), Pompe Disease, and Muscle Atrophy. Dr. Emre is currently accepting new patients.

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

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Carol Wittlieb is a Pediatric Cardiologist and a Cardiologist in Philadelphia, Pennsylvania. Dr. Wittlieb is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Duchenne Muscular Dystrophy, Cardiomyopathy, Becker Muscular Dystrophy, Familial Dilated Cardiomyopathy, and Heart Transplant.

      Experienced in Pompe Disease
      Pediatric Cardiology | Cardiology | Pediatrics
      Experienced in Pompe Disease
      Pediatric Cardiology | Cardiology | Pediatrics

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Jonathan Edelson is a Pediatric Cardiologist and a Cardiologist in Philadelphia, Pennsylvania. Dr. Edelson is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Congenital Heart Disease (CHD), Heart Failure, Cardiomyopathy, Heart Transplant, and Gastrostomy.

      Showing 1-20 of 33

      Last Updated: 10/30/2025

      What is the definition of Pompe Disease?

      Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

      Which doctors treat Pompe disease?     

      Pompe disease is usually treated by a multidisciplinary team of specialists. This care team can include a neurologist, who treats nerve and muscle problems, and a geneticist, who understands conditions caused by changes in genes. Cardiologists may help if the heart is affected, while pulmonologists help if breathing is a concern. Physical therapists and dietitians may also be part of the care team to assist with muscle strength and nutrition. 

      How is Pompe disease diagnosed?     

      Pompe disease is a rare genetic disorder, so diagnosing it can sometimes take time. Doctors usually start with blood tests to check the level of an enzyme called acid alpha-glucosidase (GAA). People with Pompe disease have low levels of this enzyme. If the blood test shows a problem, genetic testing is often done to confirm the diagnosis by looking for changes in the GAA gene. Sometimes, doctors may also do a muscle biopsy, where a small sample of muscle is taken and checked for signs of the disease. Early diagnosis is important for starting treatment as soon as possible. 

      How is Pompe disease treated? 

      Pompe disease is treated with enzyme replacement therapy (ERT). This treatment gives the body more of the enzyme that is missing or not working well. ERT is delivered through an IV and helps slow down the muscle damage caused by Pompe disease. Other treatments depend on how the disease affects the body. Physical therapy can help keep muscles strong and improve movement. Some people may need breathing support, like using a ventilator, if their lungs are affected. In severe cases, especially in infants, heart care may also be needed. A dietitian might help with nutrition, especially if eating or swallowing becomes hard.  

      What is the life expectancy for someone with Pompe disease? 

      Life expectancy for someone with Pompe disease depends on the type and when it’s diagnosed. Infantile-onset Pompe disease, which appears in babies, can be very serious. Without treatment, babies may not survive beyond their first year. With ERT and early diagnosis, some babies can live much longer. In late-onset Pompe disease, which appears later in life, life expectancy varies but can be improved with treatment. While Pompe disease is lifelong, early treatment and regular care can help people manage their symptoms and improve their quality of life.   

      When should I see a Pompe Disease doctor near Philadelphia, PA?

      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 Philadelphia, PA?

      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 Philadelphia, PA?

      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 Philadelphia, PA?

      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 Philadelphia, PA?

      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 Philadelphia, PA?

      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 Philadelphia, PA?

      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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