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Results 1 - 10 of 11 for refsum disease
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  1. 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.The vision ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  2. Leukodystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Start Here ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... Leukodystrophy refers to genetic diseases that predominantly ...
    https://www.ninds.nih.gov/.../disorders/leukodystrophy - External Health Links
  3. PHYH gene 
    ... more than 90 percent of all cases of Refsum disease. About 30 mutations in this gene have been ... smell and causes the other specific features of Refsum disease. More About This Health Condition LN1 LNAP1 PAHX ...
    https://medlineplus.gov/genetics/gene/phyh - Genetics
  4. PEX7 gene 
    ... cause a small percentage of all cases of Refsum disease. The three mutations known to be responsible for ... acids and other substances effectively.In people with Refsum disease, a shortage of phytanoyl-CoA hydroxylase prevents peroxisomes ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  5. Peripheral Nerve Disorders (National Library of Medicine)  
    What are peripheral nerves? Nerves are like wires that carry messages back and forth between your brain and your body. Your peripheral nerves branch off ...
    https://medlineplus.gov/peripheralnervedisorders.html - Health Topics
  6. Retinal Disorders (National Library of Medicine)  
    What are retinal disorders? Retinal disorders are conditions that affect the retina, the thin light-sensitive tissue at the back of your eye. The retina ...
    https://medlineplus.gov/retinaldisorders.html - Health Topics
  7. Taste and Smell Disorders (National Library of Medicine)  
    Our senses of taste and smell give us great pleasure. Taste helps us enjoy food and beverages. Smell lets us enjoy the scents and fragrances like roses or ...
    https://medlineplus.gov/tasteandsmelldisorders.html - Health Topics
  8. Zellweger spectrum disorder 
    ... adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a single condition ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  9. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Birth Defects/Specifics ... Birth Defects ... What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  10. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
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