The 20 Best Infantile Refsum Disease Doctors in Portugal

Find the Top Infantile Refsum Disease Experts and Specialists

Last Updated: 02/22/2026

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MediFind found 2 doctor with experience in Infantile Refsum Disease near Portugal. Of these, 2 are Advanced.

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2 providers found
    Advanced in Infantile Refsum Disease

    Patricia G. Cardoso
    Advanced in Infantile Refsum Disease

    Patricia G. Cardoso
    Matosinhos, PT 

    Patricia Cardoso practices in Matosinhos, Portugal. Ms. Cardoso is rated as an Advanced expert by MediFind in the treatment of Infantile Refsum Disease. Her top areas of expertise are Infantile Refsum Disease, Refsum Disease, Zellweger Syndrome, and Infantile Neutropenia.

    Advanced in Infantile Refsum Disease

    Paula Garcia
    Advanced in Infantile Refsum Disease

    Paula Garcia
    Coimbra, PT 

    Paula Garcia practices in Coimbra, Portugal. Ms. Garcia is rated as an Advanced expert by MediFind in the treatment of Infantile Refsum Disease. Her top areas of expertise are Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Infantile Refsum Disease, Galactosemia, and GABA-Transaminase Deficiency.

    Learn about our expert tiers
    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 1-2 of 2

    Last Updated: 02/22/2026

    What is the definition of Infantile Refsum Disease?

    Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies. IRD can cause low muscle tone (hypotonia), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay, sensorineural hearing loss, and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by genetic changes in one of the PEX genes and are inherited in an autosomal recessive manner. Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects.

    When should I see an Infantile Refsum 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 an Infantile Refsum 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 Infantile Refsum Disease doctor in Portugal?

    You can find an Infantile Refsum Disease doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank Infantile Refsum 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 Infantile Refsum 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 an Infantile Refsum 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 Infantile Refsum Disease doctor search results page. 

    Why is it important to get a second opinion from a different Infantile Refsum 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 an Infantile Refsum 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 Infantile Refsum 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 Infantile Refsum 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 Infantile Refsum Disease doctors in Portugal?

    Look for the filter feature on the left side of the Infantile Refsum 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 an Infantile Refsum Disease doctor that offers video calls?

    Look for the filter feature on the left-side of the Infantile Refsum 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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