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59 results

  1. ... Other Features ABCD1 Adrenomyeloneuropathy (AMN) (See X-Linked Adrenoleukodystrophy .) XL Slowly progressing paraparesis, sphincter control abnormalities, & sexual ...
  2. ... Brain MRI Findings ABCD1 Adrenomyeloneuropathy (See X-Linked Adrenoleukodystrophy .) XL Most commonly manifests in late 20s w/ ... posted live 22 April 2015 (mvdk) Original submission References Literature Cited Blanz J, Schweizer M, Auberson M, ...
  3. ... hypoparathyroidism. Addison disease also occurs in X-linked adrenoleukodystrophy . Recessive infantile hypoaldosteronism (corticosterone methyloxidase type II deficiency; ...
  4. ... clinical features. These include metachromatic leukodystrophy , X-linked adrenoleukodystrophy , childhood ataxia with central nervous system hypomyelination/vanishing ...
  5. ... Metabolic causes of progressive HSP include X-linked adrenoleukodystrophy , arylsulfatase A deficiency , and mitochondrial dysfunction (see Mitochondrial ... posted live 16 December 2004 (esb) Original submission References Literature Cited Ben Hamida M, Hentati F, Ben ...
  6. ... Pseudoxanthoma elasticum 100% ABCD1 ≥5 pseudogenes X-linked adrenoleukodystrophy 100% ACTB ≥18 pseudogenes Baraitser-Winter syndrome cerebrofrontofacial ...
  7. NLM Digital Collections - Betibeglogene autotemcel for beta thalassemia : effectiveness and value : final evidence ... 
    Publication: [Boston, Massachusetts] : Institute for Clinical and Economic Review, July 19, 2022
    ... have also been reported in patients with cerebral adrenoleukodystrophy treated with elivaldogene autotemcel; at least one case ... Application for eli-cel Gene Therapy for Cerebral Adrenoleukodystrophy (CALD) in Patients Without a Matched Sibling Donor. ...
  8. NLM Digital Collections - National Library of Medicine classification : a scheme for the shelf arrangement of library ... 
    Publication: Bethesda, Md. : U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Library of Medicine ; Washington, DC : For sale by the Supt. of Docs., U.S. G.P.O., 1999
    ... see Corticotropin Adrenogenital Syndrome see Adrenal Hyperplasia, Congenital Adrenoleukodystrophy WD 205.5.L5 Adrenoleukodystrophy, Neonatal see Peroxisomal ...
  9. ... see Corticotropin Adrenogenital Syndrome see Adrenal Hyperplasia, Congenital Adrenoleukodystrophy WD 205.5.L5 Adrenolytics see Adrenergic Agents Adrenomimetics see Adrenergic Agents Adrenomyeloneuropathy see ... see Doxorubicin Adsorbents see Dermatologic Agents; Gastrointestinal ...
  10. ... a form of “‘elephant man's dis- ease'’) . B Adrenoleukodystrophy sis (Lou Gehrig's disease) . ease-fighting antibodies) . (another ... the case; and expanding and enhancing the traditional reference, research assistance, coding, and retrieval activities of the ...
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