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- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a ... Variants (also called mutations) ...
- ... 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/ ...
- Adult Refsum disease (National Institute of Neurological Disorders and Stroke)Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Leukodystrophy ...
- Leukodystrophy (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 ...
- Nonalcoholic Fatty Liver Disease (American Academy of Family Physicians)Fatty Liver Disease/Learn More ... Fatty Liver Disease ... American Academy of Family Physicians
- 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 ...
- 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 ...