The 20 Best Refsum Disease Doctors in Brazil

Find the Top Refsum Disease Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 17 doctor with experience in Refsum Disease near Brazil. Of these, 9 are Experienced, 7 are Advanced and 1 are Distinguished.

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17 providers found
    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    2350 Ramiro Barcelos Street, 
    Porto Alegre, RS, BR 

    Moacir Wajner practices practicing medicine in Porto Alegre, Brazil. Wajner is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 26 other conditions, according to our data. Their clinical expertise encompasses Medium-Chain Acyl-CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, and Sulfite Oxidase Deficiency.

    Advanced in Refsum Disease
    Advanced in Refsum Disease
    Ramiro Barcelos Street, 2600-Attached, 
    Porto Alegre, RS, BR 

    Alexandre Amaral practices practicing medicine in Porto Alegre, Brazil. Mr. Amaral is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Glutaric Acidemia Type 1, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and Mitochondrial Trifunctional Protein Deficiency.

    Advanced in Refsum Disease
    Advanced in Refsum Disease
    Porto Alegre, RS, BR 

    Carmen Vargas practices practicing medicine in Porto Alegre, Brazil. Ms. Vargas is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Maple Syrup Urine Disease, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

    Learn about our expert tiers
    Advanced in Refsum Disease
    Advanced in Refsum Disease
    Porto Alegre, RS, BR 

    Anelise Tonin practices practicing medicine in Porto Alegre, Brazil. Ms. Tonin is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Refsum Disease, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Ornithine Translocase Deficiency, and Mitochondrial Trifunctional Protein Deficiency.

    Advanced in Refsum Disease
    Advanced in Refsum Disease
    Porto Alegre, RS, BR 

    Angela Zanatta practices practicing medicine in Porto Alegre, Brazil. Ms. Zanatta is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Ornithine Translocase Deficiency, Refsum Disease, Urea Cycle Disorders (UCD), and Hyperprolinemia.

    Advanced in Refsum Disease
    Advanced in Refsum Disease
    2600, Ramiro Barcelos Street, 
    Porto Alegre, RS, BR 

    Guilhian Leipnitz practices practicing medicine in Porto Alegre, Brazil. Leipnitz is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 8 other conditions, according to our data. Their clinical expertise encompasses Sulfite Oxidase Deficiency, Glutaric Acidemia Type 1, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, and Glycine Encephalopathy.

    Advanced in Refsum Disease
    Advanced in Refsum Disease
    2600 Ramiro Barcelos Street Attached, 
    Porto Alegre, RS, BR 

    Angela Zemniacak practices practicing medicine in Porto Alegre, Brazil. Ms. Zemniacak is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Refsum Disease, Dihydrolipoamide Dehydrogenase Deficiency, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and L-2-Hydroxyglutaric Aciduria.

    Advanced in Refsum Disease
    Advanced in Refsum Disease
    Campinas, SP, BR 

    Estela Busanello practices practicing medicine in Campinas, Brazil. Busanello is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses Refsum Disease, Glutaric Acidemia Type 1, Ornithine Translocase Deficiency, and Zellweger Syndrome.

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Sao Paulo, SP, BR 

    Fernando Freua practices practicing medicine in Sao Paulo, Brazil. Mr. Freua is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Spastic Paraplegia Type 7, Spinocerebellar Ataxia Type 23, Spastic Paraplegia Type 2, and Spastic Paraplegia Type 11.

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Ramiro Barcelos Street, 2600, 
    Porto Alegre, RS, BR 

    Rafael Ribeiro practices practicing medicine in Porto Alegre, Brazil. Mr. Ribeiro is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses L-2-Hydroxyglutaric Aciduria, Glutaric Acidemia Type 1, Molybdenum Cofactor Deficiency (MoCD), and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Porto Alegre, RS, BR 

    Ana Roginski practices practicing medicine in Porto Alegre, Brazil. Ms. Roginski is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Propionic Acidemia, Pyruvate Carboxylase Deficiency, Refsum Disease, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Crato, CE, BR 

    Henrique Coutinho-Melo practices practicing medicine in Crato, Brazil. Mr. Coutinho-Melo is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. His clinical expertise encompasses Monoamine Oxidase A Deficiency, Refsum Disease, Methicillin-Resistant Staphylococcus Aureus (MRSA), and Dysarthria.

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Ramiro Barcelos Street, 2600, 
    Porto Alegre, RS, BR 

    Simone Wajner practices practicing medicine in Porto Alegre, Brazil. Ms. Wajner is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, Propionic Acidemia, Refsum Disease, and L-2-Hydroxyglutaric Aciduria.

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Sao Paulo, SP, BR 

    Fernando Kok practices practicing medicine in Sao Paulo, Brazil. Mr. Kok is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Spasticity, CACH Syndrome, Pol 3-Related Leukodystrophy, Progressive Myoclonic Epilepsy, and Bone Marrow Transplant.

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Sao Paulo, SP, BR 

    Augusto Castro practices practicing medicine in Sao Paulo, Brazil. Castro is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. Their clinical expertise encompasses Cataract Ataxia Deafness, Sotos Syndrome, Refsum Disease, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome).

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Porto Alegre, RS, BR 

    Carolina Viegas practices practicing medicine in Porto Alegre, Brazil. Ms. Viegas is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Ornithine Translocase Deficiency, Refsum Disease, Zellweger Syndrome, and Urea Cycle Disorders (UCD).

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Ramiro Barcelos Street, 2600, 
    Porto Alegre, RS, BR 

    Rafael Marschner practices practicing medicine in Porto Alegre, Brazil. Mr. Marschner is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. His clinical expertise encompasses Refsum Disease, L-2-Hydroxyglutaric Aciduria, Tyrosinemia Type 1, and Non-Alcoholic Fatty Liver Disease.

    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 1-17 of 17

    Last Updated: 04/28/2026

    What is the definition of Refsum Disease?

    Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.

    When should I see a Refsum Disease doctor in Brazil?

    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 Refsum Disease doctor in Brazil?

    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 Refsum Disease doctors in Brazil?

    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 Refsum Disease doctors in Brazil?

    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 Refsum Disease doctor in Brazil?

    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 Refsum Disease doctor search results page. 

    Why is it important to get a second opinion from a different 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 a Refsum Disease doctor in Brazil?

    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 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 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 Refsum Disease doctors in Brazil?

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

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