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Results 1 - 10 of 11 for REFSUM "DISEASE," "ADULT," 1
  1. ... of PEX7 as the second gene involved in Refsum disease. Adv Exp Med Biol. 2003;544:69-70. doi: 10.1007/978-1-4419-9072-3_9. No abstract available. Citation ...
  2. ... of PEX7 as the second gene involved in Refsum disease. Adv Exp Med Biol. 2003;544:69-70. doi: 10.1007/978-1-4419-9072-3_9. No abstract available. Citation ...
  3. ... several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 ...
  4. ... adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a ... Variants (also called mutations) ...
  5. ... Watkins PA, Gould SJ. Identification of PAHX, a Refsum disease gene. Nat Genet. ... Refsum's disease. Hum Mol Genet. 2001 Sep 1;10(18):1971-82. doi: 10.1093/hmg/ ...
  6. Leukodystrophy 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 ...
  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 ... Leukodystrophy refers to genetic diseases that predominantly ...
  8. Fatty Liver Disease/Learn More ... Fatty Liver Disease ... American Academy of Family Physicians
  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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