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Results 1 - 10 of 17 for Phytanic acid storage disease
  1. ... Heredopathia atactica polyneuritiformis HMSN IV HMSN type IV Phytanic acid storage disease Refsum syndrome Refsum's disease Genetic Testing Registry: ...
  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 ...
  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 ( ...
  4. ... 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 ...
  5. ... 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 ...
  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 ...
  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 ...
  8. 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 ...
  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 ...
  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 ...
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