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.

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736514/
https://www.ncbi.nlm.nih.gov/pubmed/26862418
http://dx.doi.org/10.1002/ccr3.434
Descripción
Sumario: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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