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Results 1 - 5 of 5 for REFSUM "DISEASE," "ADULT," 1
Did you mean resume "DISEASE," "ADULT," 1?
  1. PEX7 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  2. Refsum disease 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  3. Retinitis pigmentosa 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  4. Zellweger spectrum disorder 
    ... adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a ... Variants (also called mutations) ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  5. PHYH gene 
    ... 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/ ...
    https://medlineplus.gov/genetics/gene/phyh - Genetics