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Results 1 - 10 of 12 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. 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 ...
  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 ... From the National Institutes of Health ... Leukodystrophy ...
  8. Nonalcoholic Fatty Liver Disease (American Academy of Family Physicians)  
    Fatty Liver Disease/Learn More ... Fatty Liver Disease ... American Academy of Family Physicians
  9. 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 ...
  10. 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 ...
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