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.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Case Rep
Prif Awduron: Horn, Morten A., Mikaelsen, Karin B. M., Ferdinandusse, Sacha, Jørum, Ellen, Mellgren, Svein I., Retterstøl, Lars, Wanders, Ronald J. A., Tallaksen, Chantal M. E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2015
Pynciau:
Case Reports
Mynediad Ar-lein: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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