Phenotype prediction in patients with X-linked adrenoleukodystrophy: towards rational care.

Titel: Decision Making in Adrenoleukodystrophy
Auteur: Van Haren, Keith, Engelen, Marc
Magazine: JAMA Neurology

Titel: Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics
Auteur: Schackmann, Martin J.A., Ofman, Rob, van Geel, Björn M., Dijkstra, Inge M.E., van Engelen, Klaartje, Wanders, Ronald J.A., Engelen, Marc, Kemp, Stephan
Magazine: Molecular Genetics and Metabolism

Titel: Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy
Auteur: Engelen, Marc
Magazine: The New England Journal of Medicine

Titel: Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy
Auteur: van de Beek, Malu-Clair, Ofman, Rob, Dijkstra, Inge, Wijburg, Frits, Engelen, Marc, Wanders, Ronald, Kemp, Stephan
Magazine: Biochimica et Biophysica Acta

Titel: Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study
Auteur: van Geel, Björn M., Poll-The, Bwee Tien, Verrips, Aad, Boelens, Jaap-Jan, Kemp, Stephan, Engelen, Marc
Magazine: Journal of Inherited Metabolic Disease

Titel: The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration
Auteur: Huffnagel, Irene C, Laheji, Fiza K, Aziz-Bose, Razina, Tritos, Nicholas A, Marino, Rose, Linthorst, Gabor E, Kemp, Stephan, Engelen, Marc, Eichler, Florian
Magazine: Journal of Clinical Endocrinology & Metabolism

Titel: Disease progression in women with X-linked adrenoleukodystrophy is slow
Auteur: Huffnagel, Irene C., Dijkgraaf, Marcel G. W., Janssens, Georges E., van Weeghel, Michel, van Geel, Björn M., Poll-The, Bwee Tien, Kemp, Stephan, Engelen, Marc
Magazine: Orphanet Journal of Rare Diseases

Titel: Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history
Auteur: Kemp, Stephan, Huffnagel, Irene C., Linthorst, Gabor E., Wanders, Ronald J., Engelen, Marc
Magazine: Nature Reviews Endocrinology

Titel: Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy
Auteur: Huffnagel, Irene C., van de Beek, Malu-Clair, Showers, Amanda L., Orsini, Joseph J., Klouwer, Femke C.C., Dijkstra, Inge M.E., Schielen, Peter C., van Lenthe, Henk, Wanders, Ronald J.A., Vaz, Frédéric M., Morrissey, Mark A., Engelen, Marc, Kemp, Stephan
Magazine: Molecular Genetics and Metabolism

Titel: Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness
Auteur: Huffnagel, Irene C, van Ballegoij, Wouter J C, van Geel, Björn M, Vos, Johanna M B W, Kemp, Stephan, Engelen, Marc
Magazine: Brain

Titel: C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man
Auteur: van de Beek, Malu-Clair, Dijkstra, Inge M. E., van Lenthe, Henk, Ofman, Rob, Goldhaber-Pasillas, Dalia, Schauer, Nicolas, Schackmann, Martin, Engelen-Lee, Joo-Yeon, Vaz, Frédéric M., Kulik, Wim, Wanders, Ronald J. A., Engelen, Marc, Kemp, Stephan
Magazine: PLoS ONE