The 20 Best Fabry Disease Doctors Near Me

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The 20 Best Fabry Disease Doctors Near Me

Last Updated: 02/25/2026

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MediFind found 149 doctor with experience in Fabry Disease.

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149 providers found
    Raphael Schiffmann
    Elite in Fabry Disease
    Elite in Fabry Disease

    Texas Neurology, P.A.

    6080 N Central Expy, Ste 100, 
    Dallas, TX 
    Languages Spoken:
    English, French
    Offers Telehealth

    Dr. Schiffmann is a renowned expert on neurometabolic diseases. He earned his medical degree from the University of Liège, Belgium and a Master of Health Sciences in Clinical Research from Duke University. He is board-certified in Neurology with a Special Qualification in Child Neurology and is a Fellow of the American Academy of Neurology. Dr. Schiffmann was a lead researcher at the United States National Institutes of Health in Bethesda, Maryland for over 17 years (1991-2007) and then the Director of the Institute of Metabolic Disease at the Baylor Scott & White Research Institute in Dallas, Texas, 2008-2019. Dr. Schiffmann is a Professor in the Department of Internal Medicine, Texas Christian University and a Clinical Professor, Texas A&M University Medical School College of Medicine. He is also a Senior Vice President for Clinical Research at 4D Molecular Therapeutics. Dr. Schiffmann has been performing pre-clinical and clinical research on lysosomal storage diseases since 1991 with a special focus on the natural history, pathogenesis and therapy of Fabry disease, Gaucher disease and the leukodystrophies. One of his particular interests and areas of expertise is to address patients with undiagnosed neurological diseases. Dr. Schiffmann has published 276 peer-reviewed research articles and over 15 book chapters. Dr. Schiffmann is rated as an Elite provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Gaucher Disease Type 3, Fabry Disease, Gaucher Disease, and Leukodystrophy.

    Perry M. Elliott
    Elite in Fabry Disease
    Elite in Fabry Disease
    Barts Heart Centre St Bartholomew's Hospital, 
    London, ENG, GB 

    Perry Elliott practices in London, United Kingdom. Mr. Elliott is rated as an Elite expert by MediFind in the treatment of Fabry Disease. His top areas of expertise are Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Familial Hypertrophic Cardiomyopathy, Heart Transplant, and Cardiac Ablation.

    Christoph Wanner
    Elite in Fabry Disease
    Elite in Fabry Disease
    Oberduerrbacher Str. 6, 
    Wuerzburg, BY, DE 

    Christoph Wanner practices in Wuerzburg, Germany. Mr. Wanner is rated as an Elite expert by MediFind in the treatment of Fabry Disease. His top areas of expertise are Fabry Disease, Type 2 Diabetes (T2D), Chronic Kidney Disease, Heart Failure, and Kidney Transplant.

    Learn about our expert tiers
    Elite in Fabry Disease
    Elite in Fabry Disease
    Porto Alegre, RS, BR 

    Roberto Giugliani practices in Porto Alegre, Brazil. Mr. Giugliani is rated as an Elite expert by MediFind in the treatment of Fabry Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Bone Marrow Transplant.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Paris, FR 

    Olivier Benveniste practices in Paris, France. Mr. Benveniste is rated as an Elite expert by MediFind in the treatment of Fabry Disease. His top areas of expertise are Necrotizing Myopathy (NM), Antisynthetase Syndrome, Myositis, Inclusion Body Myositis, and Kidney Transplant.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Iss, 
    Zaragoza, AR, ES 

    Pilar Giraldo practices in Zaragoza, Spain. Giraldo is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Their top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Fabry Disease, and Splenectomy.

    Elite in Fabry Disease
    Pediatrics
    Elite in Fabry Disease
    Pediatrics

    Ozlem Goker-Alpan MD LLC

    3702 Pender Dr Ste 170, 
    Fairfax, VA 
    Languages Spoken:
    English

    Ozlem Goker is a primary care provider, practicing in Pediatrics in Fairfax, Virginia. Dr. Goker is rated as an Elite provider by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Gaucher Disease, Fabry Disease, Gaucher Disease Type 1, Gaucher Disease Type 3, and Splenectomy.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Lyon, FR 

    Nathalie Guffon practices in Lyon, France. Ms. Guffon is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Alpha Mannosidosis, Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidoses (MPS), and Niemann-Pick Disease.

    Elite in Fabry Disease
    Medical Genetics | Pediatrics
    Elite in Fabry Disease
    Medical Genetics | Pediatrics

    Lurie Children's Medical Group Inc.

    225 E Chicago Ave, 
    Chicago, IL 
    Languages Spoken:
    English

    Joel Charrow is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Charrow is rated as an Elite provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Achondroplasia, Isovaleric Acidemia, and Splenectomy.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Copenhagen, DK 

    Ulla Rasmussen-Feldt practices in Copenhagen, Denmark. Ms. Rasmussen-Feldt is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Hypopituitarism, Addison's Disease, Hypothyroidism, Hormone Replacement Therapy (HRT), and Thyroidectomy.

    Elite in Fabry Disease
    Medical Genetics | Pediatrics
    Elite in Fabry Disease
    Medical Genetics | Pediatrics

    Children's Hospital Medical Center

    3333 Burnet Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English

    Robert Hopkin is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Hopkin is rated as an Elite provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Fabry Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Micrognathia, and Orchiectomy.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Amsterdam, NH, NL 

    Frederic Vaz practices in Amsterdam, Netherlands. Mr. Vaz is rated as an Elite expert by MediFind in the treatment of Fabry Disease. His top areas of expertise are Barth Syndrome, Primary Carnitine Deficiency, Zellweger Syndrome, Cerebrotendinous Xanthomatosis, and Laryngectomy.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Queen Square, 
    London, ENG, GB 

    Robin Lachmann practices in London, United Kingdom. Lachmann is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Their top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Fabry Disease, X-Linked Hypophosphatemia, and Osteotomy.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Bordeaux, FR 

    Didier Lacombe practices in Bordeaux, France. Mr. Lacombe is rated as an Elite expert by MediFind in the treatment of Fabry Disease. His top areas of expertise are Floating-Harbor Syndrome, Rubinstein-Taybi Syndrome, Kabuki Syndrome, Acromicric Dysplasia, and Kidney Transplant.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Monza, IT 

    Rossella Parini practices in Monza, Italy. Ms. Parini is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, and Bone Marrow Transplant.

    Elite in Fabry Disease
    Hematology
    Elite in Fabry Disease
    Hematology

    University Of Miami

    8170 Royal Palm Blvd, 
    Coral Springs, FL 
    Languages Spoken:
    English

    Neal Weinreb is a Hematologist in Coral Springs, Florida. Dr. Weinreb is rated as an Elite provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Gaucher Disease Type 2, and Splenectomy.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Amsterdam, NH, NL 

    Carla Hollak practices in Amsterdam, Netherlands. Ms. Hollak is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Gaucher Disease Type 1, Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Classic Galactosemia, and Splenectomy.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Seoul, KR 

    Han-wook Yoo practices in Seoul, Republic of Korea. Yoo is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Their top areas of expertise are Congenital Lipoid Adrenal Hyperplasia, Idiopathic Short Stature (ISS), Citrullinemia, Hormone Replacement Therapy (HRT), and Liver Transplant.

    Elite in Fabry Disease
    Elite in Fabry Disease
    UCL Queen Square Institute Of Neurology, 
    London, ENG, GB 

    Derralynn Hughes practices in London, United Kingdom. Hughes is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Their top areas of expertise are Fabry Disease, Gaucher Disease, Gaucher Disease Type 1, Splenectomy, and Pacemaker Implantation.

    Elite in Fabry Disease
    Elite in Fabry Disease
    Warsaw, MZ, PL 

    Anna Szymanska-Tylki practices in Warsaw, Poland. Ms. Szymanska-Tylki is rated as an Elite expert by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Gaucher Disease, Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Gaucher Disease Type 1, and Liver Transplant.

    Showing 1-20 of 149

    Last Updated: 02/25/2026

    What is the definition of Fabry Disease?

    Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness or streaks in the front part of the eye (corneal opacity or corneal verticillata); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Additional signs and symptoms are possible, which can vary among affected individuals.

    When should I see a Fabry Disease doctor near me?

    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 Fabry Disease doctor near me?

    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 Fabry Disease doctors near me?

    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 Fabry Disease doctors near me?

    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 Fabry Disease doctor near me?

    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 Fabry Disease doctor search results page. 

    Why is it important to get a second opinion from a different Fabry 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 Fabry Disease doctor near me?

    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 Fabry 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 Fabry 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 Fabry Disease doctors near me?

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

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