Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report

X‐linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of diagnosis in cases with atypical presentation.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Horn, Morten A., Mikaelsen, Karin B. M., Ferdinandusse, Sacha, Jørum, Ellen, Mellgren, Svein I., Retterstøl, Lars, Wanders, Ronald J. A., Tallaksen, Chantal M. E.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2015
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4736514/
https://ncbi.nlm.nih.gov/pubmed/26862418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.434
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