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60 results

  1. ... topic >Degenerative Nerve Diseases</related-topic><see-reference >Adrenoleukodystrophy</see-reference><see-reference >Canavan Disease</see-reference><site ><information- ...
  2. ... family D member 1 ABCD1 @ LOVD X-linked Adrenoleukodystrophy Database (ABCD1) ABCD1 ABCD1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. ... National Library of Medicine) Clinical Trials ClinicalTrials.gov: Adrenoleukodystrophy ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  4. ... MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  5. ... posted live 22 February 2010 (mvdk) Original submission ... cerebral X-linked adrenoleukodystrophy after head trauma. Can J Neurol Sci. 2017; ...
  6. ... 2 Carrier Frequency Ethnicity (Specific Region) Reference Sequences References ABCC2 Dubin Johnson ... ABCD1 Adrenoleukodystrophy XL c.686T>C p.Leu229Pro <100% NA ...
  7. ... individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described ... Zellweger syndrome) Intermediate/milder ZSD (previously called neonatal adrenoleukodystrophy, infantile Refsum disease, or Heimler syndrome) For synonyms ...
  8. ... or moron$).tw. 14 multipl$ handicap$.tw. 15 adrenoleukodystrophy/ or exp mental retardation malformation syndrome/ or cerebral ... or west syndrome/ 16 15 use emez 17 adrenoleukodystrophy/ or angelman syndrome/ or cerebral palsy/ or coffin- ...
  9. ... Metabolic, Inborn C10.228.140.163.100.084 Adrenoleukodystrophy C10.228.140.163.100.168 Cerebral Amyloid ... seases C10.228.140.163.100.362.250 Adrenoleukodystrophy C10.228.140.163.100.362.312 Alexander ...
  10. ... other_name >Pseudoadrenoleukodystrophy</other_name><other_name >Pseudoneonatal adrenoleukodystrophy</other_name><other_name >Straight-chain acyl-CoA ...
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