The 20 Best Refsum Disease Doctors in The United Kingdom

Find the Top Refsum Disease Experts and Specialists

Last Updated: 06/30/2026

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MediFind found 39 doctor with experience in Refsum Disease near The United Kingdom. Of these, 30 are Experienced, 6 are Advanced and 3 are Distinguished.

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39 providers found
    Distinguished in Refsum Disease

    Anthony S. Wierzbicki
    Distinguished in Refsum Disease

    Anthony S. Wierzbicki
    Referral may be required

    Guy's And St. Thomas' Hospitals

    London, ENG, GB 

    Anthony Wierzbicki practices practicing medicine in London, United Kingdom. Mr. Wierzbicki is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Apolipoprotein C2 Deficiency, Familial Lipoprotein Lipase Deficiency, High Cholesterol, and Refsum Disease.

    Distinguished in Refsum Disease

    Sarah J. Firman
    Distinguished in Refsum Disease

    Sarah J. Firman
    Referral may be required

    Guy's & St Thomas' Hospitals NHS Foundation Trust

    London, ENG, GB 

    Sarah Firman practices practicing medicine in London, United Kingdom. Ms. Firman is rated as a Distinguished 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 Refsum Disease, Phenylketonuria (PKU), and ADULT Syndrome.

    Distinguished in Refsum Disease

    Omar A. Mahroo
    Distinguished in Refsum Disease

    Omar A. Mahroo
    Referral may be required
    School Of Life Course Sciences, 
    London, ENG, GB 

    Omar Mahroo practices practicing medicine in London, United Kingdom. Mr. Mahroo is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, Late-Onset Retinal Degeneration, Cataract Removal, and Trabeculectomy.

    Learn about our expert tiers
    Advanced in Refsum Disease

    Youssef Khalil
    Advanced in Refsum Disease

    Youssef Khalil
    Referral may be required
    Great Ormond Street Institute Of Child Health, 
    London, ENG, GB 

    Youssef Khalil practices practicing medicine in London, United Kingdom. Mr. Khalil is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Argininosuccinic Aciduria, Pyridoxine Deficiency, Orotic Aciduria Type 1, and Refsum Disease.

    Advanced in Refsum Disease

    Malena Varela-Daich
    Advanced in Refsum Disease

    Malena Varela-Daich
    Referral may be required
    London, ENG, GB 

    Malena Varela-Daich practices practicing medicine in London, United Kingdom. Ms. Varela-Daich is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Retinopathy Pigmentary Mental Retardation, Retinitis Pigmentosa, Cone-Rod Dystrophy, Late-Onset Retinal Degeneration, and Leg or Foot Amputation.

    Advanced in Refsum Disease

    Matthew J. Jennings
    Advanced in Refsum Disease

    Matthew J. Jennings
    Referral may be required
    Cambridge, ENG, GB 

    Matthew Jennings practices practicing medicine in Cambridge, United Kingdom. Mr. Jennings is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Charcot-Marie-Tooth Disease, Refsum Disease, Hereditary Sensory Neuropathy Type 1 (HSN1), and Spinal Muscular Atrophy Type 2.

    Advanced in Refsum Disease

    Rose P. Hodgson
    Advanced in Refsum Disease

    Rose P. Hodgson
    Referral may be required
    Oxford, ENG, GB 

    Rose Hodgson practices practicing medicine in Oxford, United Kingdom. Ms. Hodgson is rated as an Advanced 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 Prolidase Deficiency, Refsum Disease, and Charcot-Marie-Tooth Disease.

    Advanced in Refsum Disease

    Rehiana Ali
    Advanced in Refsum Disease

    Rehiana Ali
    Referral may be required
    Du Cane Road 160, 
    London, ENG, GB 

    Rehiana Ali practices practicing medicine in London, United Kingdom. Ali is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 2 other conditions, according to our data. Their clinical expertise encompasses Infantile Refsum Disease, Refsum Disease, Multiple Sclerosis (MS), and Relapsing Multiple Sclerosis (RMS).

    Advanced in Refsum Disease

    Giuseppe Piscosquito
    Advanced in Refsum Disease

    Giuseppe Piscosquito
    Referral may be required
    Queen Square, 
    London, ENG, GB 

    Giuseppe Piscosquito practices practicing medicine in London, United Kingdom. Mr. Piscosquito is rated as an Advanced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Charcot-Marie-Tooth Disease, Miller-Fisher Syndrome, Refsum Disease, and Recurrent Peripheral Facial Palsy.

    Experienced in Refsum Disease

    Rita Horvath
    Experienced in Refsum Disease

    Rita Horvath
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Rita Horvath practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Horvath is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 49 other conditions, according to our data. Her clinical expertise encompasses Charcot-Marie-Tooth Disease, Congenital Myasthenic Syndrome, Spasticity, and Optic Nerve Atrophy.

    Experienced in Refsum Disease

    Gareth T. Banks
    Experienced in Refsum Disease

    Gareth T. Banks
    Referral may be required
    Nottingham, ENG, GB 

    Gareth Banks practices practicing medicine in Nottingham, United Kingdom. Mr. Banks is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. His clinical expertise encompasses Refsum Disease, Focal or Multifocal Malformations in Neuronal Migration, Achalasia Microcephaly Syndrome, and Microcephaly.

    Experienced in Refsum Disease

    Peter T. Clayton
    Experienced in Refsum Disease

    Peter T. Clayton
    Referral may be required
    UCL Great Ormond Street Institute Of Child Health, 
    London, ENG, GB 

    Peter Clayton practices practicing medicine in London, United Kingdom. Mr. Clayton is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Pyridoxine Deficiency, Smith-Lemli-Opitz Syndrome, Cerebrotendinous Xanthomatosis, and Spinocerebellar Ataxia Type 20.

    Experienced in Refsum Disease

    Julien Baruteau
    Experienced in Refsum Disease

    Julien Baruteau
    Referral may be required
    Great Ormond Street Hospital Biomedical Research Centre, 
    London, ENG, GB 

    Julien Baruteau practices practicing medicine in London, United Kingdom. Mr. Baruteau is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Orotic Aciduria Type 1, Ornithine Transcarbamylase Deficiency, and Liver Transplant.

    Experienced in Refsum Disease

    Francesca Mazzacuva
    Experienced in Refsum Disease

    Francesca Mazzacuva
    Referral may be required
    London, ENG, GB 

    Francesca Mazzacuva practices practicing medicine in London, United Kingdom. Ms. Mazzacuva 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 Ventricular Fibrillation, Refsum Disease, Pantothenate Kinase-Associated Neurodegeneration, and Niemann-Pick Disease.

    Experienced in Refsum Disease

    Genevieve A. Wright
    Experienced in Refsum Disease

    Genevieve A. Wright
    Referral may be required
    London, ENG, GB 

    Genevieve Wright practices practicing medicine in London, United Kingdom. Ms. Wright is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, Late-Onset Retinal Degeneration, and Cone-Rod Dystrophy.

    Experienced in Refsum Disease

    Samantha Malka
    Experienced in Refsum Disease

    Samantha Malka
    Referral may be required
    London, ENG, GB 

    Samantha Malka practices practicing medicine in London, United Kingdom. Ms. Malka is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Retinopathy Pigmentary Mental Retardation, Coloboma, Cone-Rod Dystrophy, and Retinitis Pigmentosa.

    Experienced in Refsum Disease

    Raya Shawi-Al
    Experienced in Refsum Disease

    Raya Shawi-Al
    Referral may be required
    London, ENG, GB 

    Raya Shawi-Al practices practicing medicine in London, United Kingdom. Ms. Shawi-Al is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. Her clinical expertise encompasses Refsum Disease, Primary Amyloidosis, Cutis Laxa, and Familial Transthyretin Amyloidosis.

    Experienced in Refsum Disease

    Gavin Arno
    Experienced in Refsum Disease

    Gavin Arno
    Referral may be required
    City Road, 
    London, ENG, GB 

    Gavin Arno practices practicing medicine in London, United Kingdom. Mr. Arno is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Late-Onset Retinal Degeneration, Retinopathy Pigmentary Mental Retardation, Retinitis Pigmentosa, and Isolated Ectopia Lentis.

    Experienced in Refsum Disease

    Michel Michaelides
    Experienced in Refsum Disease

    Michel Michaelides
    Referral may be required
    City Road, 
    London, ENG, GB 

    Michel Michaelides practices practicing medicine in London, United Kingdom. Mr. Michaelides is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Retinopathy Pigmentary Mental Retardation, Color Blindness, Retinitis Pigmentosa, Vitrectomy, and Cataract Removal.

    Experienced in Refsum Disease

    Consuelo Anzilotti
    Experienced in Refsum Disease

    Consuelo Anzilotti
    Referral may be required
    Headley Way, 
    Oxford, ENG, GB 

    Consuelo Anzilotti practices practicing medicine in Oxford, United Kingdom. Ms. Anzilotti is rated as an Experienced expert by MediFind in the treatment of Refsum Disease. Her clinical expertise encompasses Refsum Disease and Common Variable Immune Deficiency.

    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 39

    Last Updated: 06/30/2026

    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 The United Kingdom?

    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 The United Kingdom?

    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 Refsum Disease doctor in The United Kingdom?

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

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    How does MediFind rank Refsum Disease doctors in The United Kingdom?

    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 The United Kingdom?

    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 The United Kingdom?

    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 The United Kingdom?

    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 The United Kingdom?

    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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