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
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author Horn, Morten A.
Mikaelsen, Karin B. M.
Ferdinandusse, Sacha
Jørum, Ellen
Mellgren, Svein I.
Retterstøl, Lars
Wanders, Ronald J. A.
Tallaksen, Chantal M. E.
author_facet Horn, Morten A.
Mikaelsen, Karin B. M.
Ferdinandusse, Sacha
Jørum, Ellen
Mellgren, Svein I.
Retterstøl, Lars
Wanders, Ronald J. A.
Tallaksen, Chantal M. E.
author_sort Horn, Morten A.
collection PubMed
description 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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spelling pubmed-47365142016-02-09 Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report Horn, Morten A. Mikaelsen, Karin B. M. Ferdinandusse, Sacha Jørum, Ellen Mellgren, Svein I. Retterstøl, Lars Wanders, Ronald J. A. Tallaksen, Chantal M. E. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2015-12-21 /pmc/articles/PMC4736514/ /pubmed/26862418 http://dx.doi.org/10.1002/ccr3.434 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Horn, Morten A.
Mikaelsen, Karin B. M.
Ferdinandusse, Sacha
Jørum, Ellen
Mellgren, Svein I.
Retterstøl, Lars
Wanders, Ronald J. A.
Tallaksen, Chantal M. E.
Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
title Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
title_full Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
title_fullStr Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
title_full_unstemmed Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
title_short Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
title_sort mild phenotype in an adult male with x‐linked adrenoleukodystrophy – case report
topic Case Reports
url 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
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