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Results 1 - 10 of 17 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 ... signs and symptoms.The vision loss associated with Refsum disease is caused by an eye disorder called retinitis ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  2. Refsum Disease, Infantile From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), which are inherited ...
    https://www.ninds.nih.gov/.../disorders/refsum-disease-infantile - External Health Links
  3. Refsum Disease, Adult From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Adult Refsum disease ( ...
    https://www.ninds.nih.gov/.../disorders/refsum-disease-adult - External Health Links
  4. 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
  5. 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
  6. 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
  7. 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 ... From the National Institutes of Health ... Leukodystrophy ...
    https://www.ninds.nih.gov/.../disorders/leukodystrophy - External Health Links
  8. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... 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
  9. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  10. Choroideremia (Foundation Fighting Blindness)  
    Eye Diseases/Specifics ... Eye Diseases ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
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