The 20 Best Pompe Disease Doctors in Portugal

Find the Top Pompe Disease Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 35 doctor with experience in Pompe Disease near Portugal. Of these, 35 are Experienced.

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35 providers found
    Experienced in Pompe Disease

    Miguel Santos-Oliveira
    Experienced in Pompe Disease

    Miguel Santos-Oliveira
    Lisbon, PT 

    Miguel Santos-Oliveira practices practicing medicine in Lisbon, Portugal. Mr. Santos-Oliveira is rated as an Experienced expert 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 Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Limb-Girdle Muscular Dystrophy Type 2A, Spinal Muscular Atrophy Type 2, and Gastrostomy.

    Experienced in Pompe Disease

    Isabel M. Conceicao
    Experienced in Pompe Disease

    Isabel M. Conceicao
    Lisbon, PT 

    Isabel Conceicao practices practicing medicine in Lisbon, Portugal. Ms. Conceicao is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Familial Transthyretin Amyloidosis, Transthyretin Amyloidosis, Primary Amyloidosis, Liver Transplant, and Tissue Biopsy.

    Experienced in Pompe Disease

    Bebiana Conde
    Experienced in Pompe Disease

    Bebiana Conde
    Montes, PT 

    Bebiana Conde practices practicing medicine in Montes, Portugal. Conde is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Obstructive Sleep Apnea, Gastrostomy, and Endoscopy.

    Learn about our expert tiers
    Experienced in Pompe Disease

    Candida Barroso
    Experienced in Pompe Disease

    Candida Barroso
    Vila Franca De Xira, PT 

    Candida Barroso practices practicing medicine in Vila Franca De Xira, Portugal. Ms. Barroso is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Bilirubin Encephalopathy, Pompe Disease, and Hemolytic Disease of the Newborn.

    Experienced in Pompe Disease

    Patricio T. Aguiar
    Experienced in Pompe Disease

    Patricio T. Aguiar
    Santa Maria, PT 

    Patricio Aguiar practices practicing medicine in Santa Maria, Portugal. Aguiar is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses Fabry Disease, Swyer-James Syndrome, Congenital Lobar Emphysema, and Tabes Dorsalis.

    Experienced in Pompe Disease

    Lucia Lacerda
    Experienced in Pompe Disease

    Lucia Lacerda
    Porto, PT 

    Lucia Lacerda practices practicing medicine in Porto, Portugal. Ms. Lacerda is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Dysarthria, Krabbe Disease, Sialidosis, and Mucolipidosis 3.

    Experienced in Pompe Disease

    Ana H. Valverde
    Experienced in Pompe Disease

    Ana H. Valverde
    Amadora, PT 

    Ana Valverde practices practicing medicine in Amadora, Portugal. Ms. Valverde is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Disseminated Tuberculosis, Dementia, Subacute Sclerosing Panencephalitis, and Pompe Disease.

    Experienced in Pompe Disease

    Jorge S. Marques
    Experienced in Pompe Disease

    Jorge S. Marques
    Trindade, PT 

    Jorge Marques practices practicing medicine in Trindade, Portugal. Marques is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses Trichorhinophalangeal Syndrome Type 1 (TRPS1), Pediatric Growth Hormone Deficiency, Growth Hormone Deficiency (GHD), and Pompe Disease.

    Experienced in Pompe Disease

    Marta J. Guimaraes
    Experienced in Pompe Disease

    Marta J. Guimaraes
    Centro Hospitalar Do Alto Ave, 
    Guimaraes, PT 

    Marta Guimaraes practices practicing medicine in Guimaraes, Portugal. Ms. Guimaraes is rated as an Experienced expert 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 Obesity, Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Gastric Bypass, and Gastrectomy.

    Experienced in Pompe Disease

    Vania Almeida
    Experienced in Pompe Disease

    Vania Almeida
    Vila Franca De Xira, PT 

    Vania Almeida practices practicing medicine in Vila Franca De Xira, Portugal. Ms. Almeida is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Guillain-Barre Syndrome and Pompe Disease.

    Experienced in Pompe Disease

    Joao C. Winck
    Experienced in Pompe Disease

    Joao C. Winck
    Porto, PT 

    Joao Winck practices practicing medicine in Porto, Portugal. Mr. Winck is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Cerebral Hypoxia, Gastrostomy, and Endoscopy.

    Experienced in Pompe Disease

    Carla M. Mendonca
    Experienced in Pompe Disease

    Carla M. Mendonca
    Lisbon, PT 

    Carla Mendonca practices practicing medicine in Lisbon, Portugal. Ms. Mendonca is rated as an Experienced expert 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 Continuous Spike-Wave During Slow Sleep Syndrome, Accessory Deep Peroneal Nerve, DPAGT1-CDG, and SRD5A3-CDG.

    Experienced in Pompe Disease

    Argemiro M. Geraldo
    Experienced in Pompe Disease

    Argemiro M. Geraldo
    Coimbra, PT 

    Argemiro Geraldo practices practicing medicine in Coimbra, Portugal. Geraldo is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses Limb-Girdle Muscular Dystrophy, Congenital Myasthenic Syndrome, Lymphofollicular Hyperplasia, and Pompe Disease.

    Experienced in Pompe Disease

    Teresa Coelho
    Experienced in Pompe Disease

    Teresa Coelho
    Santo Antonio De Felheiros, PT 

    Teresa Coelho practices practicing medicine in Santo Antonio De Felheiros, Portugal. Ms. Coelho is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Familial Transthyretin Amyloidosis, Transthyretin Amyloidosis, Primary Amyloidosis, Cardiac Amyloidosis, and Liver Transplant.

    Experienced in Pompe Disease

    Ricardo Mare
    Experienced in Pompe Disease

    Ricardo Mare
    Braga, PT 

    Ricardo Mare practices practicing medicine in Braga, Portugal. Mr. Mare is rated as an Experienced expert 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 Petrositis, Cavernous Sinus Thrombosis, Cystic Hygroma, and Hygroma Cervical.

    Experienced in Pompe Disease

    Susana Moreira
    Experienced in Pompe Disease

    Susana Moreira
    Lisbon, PT 

    Susana Moreira practices practicing medicine in Lisbon, Portugal. Ms. Moreira is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Pneumomediastinum, Central Sleep Apnea, Diabetic Retinopathy, and Subcutaneous Emphysema.

    Experienced in Pompe Disease

    Luis G. Negrao
    Experienced in Pompe Disease

    Luis G. Negrao
    Coimbra, PT 

    Luis Negrao practices practicing medicine in Coimbra, Portugal. Mr. Negrao is rated as an Experienced expert 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 Spinocerebellar Ataxia Type 3, Congenital Muscular Dystrophy Type 1A, Benign Autosomal Dominant Myopathy, Olivopontocerebellar Atrophy, and Thymectomy.

    Experienced in Pompe Disease

    Mamede P. De Carvalho
    Experienced in Pompe Disease

    Mamede P. De Carvalho
    Lisbon, PT 

    Mamede De Carvalho practices practicing medicine in Lisbon, Portugal. De Carvalho is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Cramp-Fasciculation Syndrome, Spinal Muscular Atrophy (SMA), and Gastrostomy.

    Experienced in Pompe Disease

    Joao P. Moita
    Experienced in Pompe Disease

    Joao P. Moita
    Coimbra, PT 

    Joao Moita practices practicing medicine in Coimbra, Portugal. Mr. Moita is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. His clinical expertise encompasses Chronic Obstructive Pulmonary Disease (COPD), Obstructive Sleep Apnea, Cramp-Fasciculation Syndrome, and Central Sleep Apnea.

    Experienced in Pompe Disease

    Sara C. Domingues
    Experienced in Pompe Disease

    Sara C. Domingues
    Coimbra, PT 

    Sara Domingues practices practicing medicine in Coimbra, Portugal. Ms. Domingues is rated as an Experienced expert 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 Pneumomediastinum, Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type 2, and Gastrostomy.

    While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
    Showing 1-20 of 35

    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 in Portugal?

    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 in Portugal?

    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 do I find the best Pompe Disease doctor in Portugal?

    You can find a Pompe Disease doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank Pompe Disease doctors in Portugal?

    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 in Portugal?

    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 in Portugal?

    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 in Portugal?

    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 in Portugal?

    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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