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Results 1 - 10 of 15 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. Adult Refsum disease 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 ... Leukodystrophy ...
    https://www.ninds.nih.gov/.../leukodystrophy#refsum-disease-adult - External Health Links
  3. 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
  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. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  7. 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
  8. 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
  9. Nonalcoholic Fatty Liver Disease (American Academy of Family Physicians)  
    Fatty Liver Disease/Learn More ... Fatty Liver Disease ... American Academy of Family Physicians
    https://familydoctor.org/.../?adfree=true - External Health Links
  10. Leukodystrophies (National Library of Medicine)  
    What are leukodystrophies? Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your ...
    https://medlineplus.gov/leukodystrophies.html - Health Topics
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