The 20 Best Pompe Disease Doctors Near Me in New York, NY

Find the Top Pompe Disease Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 77 doctor with experience in Pompe Disease near New York, NY. Of these, 68 are Experienced, 3 are Advanced, 3 are Distinguished and 3 are Elite.

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77 providers found
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Elite in Pompe Disease
    Medical Genetics | Pediatrics

    Westchester Medical Center Advanced Physician Services PC

    19 Bradhurst Ave, 
    Hawthorne, NY 
    Languages Spoken:
    English

    David Kronn is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Hawthorne, New York. Dr. Kronn is rated as an Elite 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 Pompe Disease, Phenylketonuria (PKU), Krabbe Disease, and Gaucher Disease Type 2.

    Elite in Pompe Disease
    Pulmonary Medicine
    Elite in Pompe Disease
    Pulmonary Medicine

    NYU Langone Rusk Pulmonary Function Lab

    240 E 38th St Rm M-15, 
    New York, NY 
    Languages Spoken:
    English

    Kenneth Berger is a Pulmonary Medicine provider practicing medicine in New York, New York. Dr. Berger is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Acid Sphingomyelinase Deficiency (ASMD), Chronic Obstructive Pulmonary Disease (COPD), and Emphysema.

    Elite in Pompe Disease
    Elite in Pompe Disease

    Office

    121 DeKalb Ave Fl 1, 
    Brooklyn, NY 
    Languages Spoken:
    English

    Suhrad Banugaria is a Pediatrics provider practicing medicine in Brooklyn, New York. Dr. Banugaria is rated as an Elite 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, Delayed Growth, and Autism Spectrum Disorder.

    Learn about our expert tiers
    Experienced in Pompe Disease
    Cardiac Electrophysiology | Cardiology
    Experienced in Pompe Disease
    Cardiac Electrophysiology | Cardiology

    Montefiore Medical Center

    111 E 210th St, 
    Bronx, NY 
    Languages Spoken:
    English

    Adaya Weissler-Snir is a Cardiac Electrophysiologist and a Cardiologist practicing medicine in Bronx, New York. Dr. Weissler-Snir is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Sengers Syndrome, Pacemaker Implantation, and Transcatheter Aortic Valve Replacement (TAVR).

    Distinguished in Pompe Disease
    Pediatrics
    Distinguished in Pompe Disease
    Pediatrics

    Mount Sinai School Of Medicine

    1428 Madison Ave, 
    New York, NY 
    Languages Spoken:
    English

    Jaya Ganesh is a Pediatrics provider practicing medicine in New York, New York. Dr. Ganesh is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 64 other conditions, according to our data. Her clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Pompe Disease, and Danon Disease.

    Distinguished in Pompe Disease
    Neurology
    Distinguished in Pompe Disease
    Neurology

    Nada Salman MD

    5 Kennedy Pkwy, 
    Cortland, NY 
    Languages Spoken:
    English

    Ahmed El is a Neurologist practicing medicine in Cortland, New York. Dr. El is rated as a Distinguished 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 Pompe Disease, Danon Disease, Tomaculous Neuropathy, and Charcot-Marie-Tooth Disease.

    Distinguished in Pompe Disease
    Distinguished in Pompe Disease

    CUIMC/Neurological Institute Of New York

    710 W 168th St, 
    New York, NY 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Emanuele Barca is a Neurologist practicing medicine in New York, New York. Dr. Barca is rated as a Distinguished 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 Leigh Syndrome, Acute Cerebellar Ataxia, Pompe Disease, and Cerebellar Multiple System Atrophy. Dr. Barca is currently accepting new patients.

    Advanced in Pompe Disease
    Advanced in Pompe Disease

    Amc

    47 New Scotland Ave, 
    Albany, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Matthew Murnane is a Neurologist practicing medicine in Albany, New York. Dr. Murnane is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 66 other conditions, according to our data. His clinical expertise encompasses Sensorimotor Polyneuropathy, Andermann Syndrome, Tomaculous Neuropathy, and Charcot-Marie-Tooth Disease.

    Experienced in Pompe Disease
    Medical Genetics
    Experienced in Pompe Disease
    Medical Genetics
    225 Community Drive, Suite 110, 
    Great Neck, NY 
    Languages Spoken:
    English

    Jessica Gold is a Medical Genetics provider practicing medicine in Great Neck, New York. Dr. Gold is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Arachnodactyly, Achard Syndrome, Gaucher Disease Type 3, and Gaucher Disease Type 1.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    The Children's Hospital At Montefiore

    3415 Bainbridge Avenue, 
    Bronx, NY 
    Languages Spoken:
    English

    Melissa Wasserstein is a Pediatrics provider practicing medicine in Bronx, New York. Dr. Wasserstein is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Reticulohistiocytoma, and Splenomegaly.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    The Children's Hospital At Montefiore

    3415 Bainbridge Avenue, 
    Bronx, NY 
    Languages Spoken:
    English

    Dr. Marion is Executive Director of the Children’s Evaluation and Rehabilitation Center and the University Center of Excellence in Developmental Disabilities at the Rose F. Kennedy Center. He is Chief of the Divisions of Genetics and of Development Medicine at the Children’s Hospital at Montefiore and Director of the Center for Congenital Disorders. A faculty member at Einstein since 1984, Dr. Marion’s interests include the natural history and genetic basis of multiple malformation syndromes. At The Children’s Hospital at Montefiore he has served as Medical Director of the Spina Bifida Center for 20 years, is the founder and Medical Director of the Williams Syndrome Center, and helped organize the Center for CardioG enetics, the Neurofibromatosis Center, and the Center for Excellence in Autism. He has published extensively in the medical literature in these areas and, in addition, is the author of seven books. Dr. Marion 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 Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, and Mucopolysaccharidoses (MPS).

    Experienced in Pompe Disease
    Pediatric Neurology
    Experienced in Pompe Disease
    Pediatric Neurology

    Cohen Children's Northwell Health Physician Partners Pediatric Neurology

    2001 Marcus Avenue, Suite W290, 
    Lake Success, NY 
    Languages Spoken:
    English, Filipino

    Emma Laureta is a Pediatric Neurologist practicing medicine in Lake Success, New York. Dr. Laureta is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Generalized Tonic-Clonic Seizure, Seizures, Epilepsy Juvenile Absence, and Epilepsy. Dr. Laureta is board certified in American Board Of Psychiatry/Neurology-Epilepsy and American Board Of Psychiatry & Neurology-Neurology With Special Qualifications In Child Neurology.

    Experienced in Pompe Disease
    Pediatric Gastroenterology | Pediatrics
    Experienced in Pompe Disease
    Pediatric Gastroenterology | Pediatrics
    1991 Marcus Avenue, Suite M100, 
    New Hyde Park, NY 
    Languages Spoken:
    English

    Michelle Tobin is a Pediatric Gastroenterologist and a Pediatrics provider practicing medicine in New Hyde Park, New York. Dr. Tobin is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Eosinophilic Esophagitis, Esophagitis, Delayed Growth, and Jaundice. Dr. Tobin is board certified in American Board Of Pediatrics and American Board Of Pediatrics/Gastroenterology.

    Experienced in Pompe Disease
    Medical Genetics
    Experienced in Pompe Disease
    Medical Genetics
    225 Community Drive, Suite 110, 
    Great Neck, NY 
    Languages Spoken:
    English

    David Tegay is a Medical Genetics provider practicing medicine in Great Neck, New York. Dr. Tegay is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His clinical expertise encompasses KBG Syndrome, Gaucher Disease Type 3, Gaucher Disease Type 2, and Gaucher Disease Type 1. Dr. Tegay is board certified in American Board Of Medical Genetics and American Osteopathic Board Of Internal Medicine.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Office

    19 Bradhurst Ave Ste 3070N, 
    Hawthorne,, NY 
    Languages Spoken:
    English

    William Frishman is a Cardiologist practicing medicine in Hawthorne,, New York. Dr. Frishman is rated as an Experienced 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 Heart Attack, Heart Failure, Cardiomyopathy, Embolectomy, and Lithotripsy.

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

    The Children's Hospital At Montefiore

    3415 Bainbridge Avenue, 
    Bronx, NY 
    Languages Spoken:
    English

    Marise D'souza is a Pediatric Cardiologist practicing medicine in Bronx, New York. Dr. D'souza is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Pompe Disease, Heart Murmurs, Patent Ductus Arteriosus, and Ventricular Septal Defects.

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

    MDVIP - Rye Brook, NY

    90 S Ridge St Ste 2-161, 
    Rye Brook, NY 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Franklin Loria is a primary care provider, practicing in Internal Medicine in Rye Brook, New York. Dr. Loria 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 Dementia, Postmenopausal Osteoporosis, Osteoporosis, and Heart Failure. Dr. Loria is currently accepting new patients.

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

    Pediatric Cardiology Associates LLC

    725 Irving Ave Ste 804, 
    Syracuse,, NY 
    Languages Spoken:
    English

    Christopher Prendergast is a Pediatric Cardiologist practicing medicine in Syracuse,, New York. Dr. Prendergast is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Ventricular Septal Defects, Isthmian Coarctation, Coarctation of the Aorta, and Patent Ductus Arteriosus.

    Experienced in Pompe Disease
    Neurology
    Experienced in Pompe Disease
    Neurology

    Mount Sinai

    1468 Madison Ave, 
    New York, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Susan Shin is a Neurologist practicing medicine in New York, New York. Dr. Shin is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 42 other conditions, according to our data. Her clinical expertise encompasses Primary Lateral Sclerosis, Guillain-Barre Syndrome, Infantile Axonal Neuropathy, and Congenital Insensitivity to Pain with Anhidrosis.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Icahn School Of Medicine At Mount Sinai Cvi Center For Health At Mt Si

    234 E 85th St, 
    New York, NY 
    Languages Spoken:
    English

    Newsha Ghodsi is a Cardiologist practicing medicine in New York, New York. Dr. Ghodsi is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 38 other conditions, according to our data. Her clinical expertise encompasses Vasculitis, High Cholesterol, Thoracic Aortic Aneurysm, Transcatheter Aortic Valve Replacement (TAVR), and Aortic Valve Replacement.

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    Last Updated: 04/28/2026

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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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