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  1. Usher Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1265
    ... AR SNHL RP Hypotonia Overlapping phenotype w/neonatal adrenoleukodystrophy, infantile Refsum disease, & Zellweger spectrum disorder PRPS1 PRPS1 ... that suggest Usher syndrome. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  2. ALS2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1243
    ... Metabolic causes of progressive HSP include X-linked adrenoleukodystrophy , arylsulfatase A deficiency , and mitochondrial dysfunction (see Mitochondrial ... HSP), and other neurodegenerative conditions. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  3. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic ... 
    https://www.ncbi.nlm.nih.gov/books/NBK588574
    ... Ile1173Phe ~100% 3 1/17 Iranian Jewish ABCD1 Adrenoleukodystrophy XL c.686T>C p.Leu229Pro <100% NA ... new mutations in Israeli patients with X-linked adrenoleukodystrophy. Genet Test. 2001; 5 :65–8. [ PubMed : 11336405 ] ...
  4. AARS2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK608563
    ... Demyelination in brain stem & cerebellum ABCD1 X-linked adrenoleukodystrophy XL Cognitive decline Pyramidal signs Neuropathy WML are ... managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  5. Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1358
    ... sexual dysfunction, & often, impaired adrenocortical function X-Linked Adrenoleukodystrophy ABHD12 AR Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & ...
  6. xmlmplus_topics_2025-04-18.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-18.xml
    ... topic >Degenerative Nerve Diseases</related-topic><see-reference >Adrenoleukodystrophy</see-reference><see-reference >Canavan Disease</see-reference>< ...
  7. pdf2018NewHeadingsSingleColumn508.pdf 
    https://www.nlm.nih.gov/.../2018NewHeadingsSingleColumn508.pdf
    ... are associated with the X-linked form of ADRENOLEUKODYSTROPHY. Tree locations: ATP Binding Cassette Transporter, Sub-Family ... an-allergy-or-intolerance. Tree locations: Signs and Symptoms, Digestive C23.888.821.387 New MeSH Headings ...
  8. pdfMeSH 2016 Hierarchy Changes 
    https://www.nlm.nih.gov/mesh/2016/download/TreeChange2016.pdf
    ... Administration, Mucosal Medical Records Adolescent Health Adrenocorticotropic Hormone Adrenoleukodystrophy Adult Day Care Centers Adult Survivors of Child ...
  9. pdfChanges made to 2016 MeSH 
    https://www.nlm.nih.gov/mesh/2016/download/TermChange2016.pdf
    ... Heading C525644 lurasidone Lurasidone Hydrochloride C538676 Melanodermic leukodystrophy Adrenoleukodystrophy C538595 Mermaid syndrome Ectromelia C402833 metoprolol succinate Metoprolol ...
  10. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... Korbonits. Initial Posting: February 1, 2018. X-Linked Adrenoleukodystrophy Gerald V Raymond, Ann B Moser, and Ali ...
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