Milde phenotype in an adult male With X-linked adrenoleukodystrophy
Permanent lenke
https://hdl.handle.net/10037/10788Dato
2015-12-21Type
Journal articleTidsskriftartikkel
Peer reviewed
Forfatter
Horn, Morten Andreas; Müller, Karin Brigitte; Ferdinandusse, Sacha; Jørum, Ellen; Mellgren, Svein Ivar; Tallaksen, ChantalSammendrag
Key Clinical Message:
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.
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.
Beskrivelse
Source: doi: 10.1002/ccr3.434