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Results 1 - 10 of 17 for Phytanic acid storage disease
  1. Refsum disease 
    ... Heredopathia atactica polyneuritiformis HMSN IV HMSN type IV Phytanic acid storage disease Refsum syndrome Refsum's disease Genetic Testing Registry: ...
    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)  
    Peripheral Nerve Disorders/Genetics ... Peripheral Nerve Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health
    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. 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
  7. 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
  8. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Birth Defects/Specifics ... Birth Defects ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  9. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - 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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