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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 ... Leukodystrophy refers to genetic diseases that predominantly ...
    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 ... Leukodystrophy refers to genetic diseases that predominantly affect the white matter of the central nervous ...
    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. 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
  7. 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
  8. 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
  9. Retinal Disorders (National Library of Medicine)  
    The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. ...
    https://medlineplus.gov/retinaldisorders.html - Health Topics
  10. 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
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