X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management M Engelen, S Kemp, M De Visser, BM van Geel, RJA Wanders, ... Orphanet journal of rare diseases 7 (1), 1-14, 2012 | 495 | 2012 |
Adrenoleukodystrophy–neuroendocrine pathogenesis and redefinition of natural history S Kemp, IC Huffnagel, GE Linthorst, RJ Wanders, M Engelen Nature Reviews Endocrinology 12 (10), 606-615, 2016 | 204 | 2016 |
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study M Engelen, M Barbier, IME Dijkstra, R Schür, RMA de Bie, C Verhamme, ... Brain 137 (3), 693-706, 2014 | 197 | 2014 |
Zellweger spectrum disorders: clinical overview and management approach FCC Klouwer, K Berendse, S Ferdinandusse, RJA Wanders, M Engelen, ... Orphanet journal of rare diseases 10, 1-11, 2015 | 183 | 2015 |
X-linked adrenoleukodystrophy: pathogenesis and treatment M Engelen, S Kemp, BT Poll-The Current neurology and neuroscience reports 14, 1-8, 2014 | 153 | 2014 |
The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration IC Huffnagel, FK Laheji, R Aziz-Bose, NA Tritos, R Marino, GE Linthorst, ... The Journal of Clinical Endocrinology & Metabolism 104 (1), 118-126, 2019 | 93 | 2019 |
Thrombospondin-2 polymorphism is associated with a reduced risk of premature myocardial infarction SM Boekholdt, MD Trip, RJG Peters, M Engelen, JMA Boer, EJM Feskens, ... Arteriosclerosis, thrombosis, and vascular biology 22 (12), e24-e27, 2002 | 86 | 2002 |
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood K Berendse, M Engelen, S Ferdinandusse, CBLM Majoie, HR Waterham, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016 | 79 | 2016 |
Arterial spin labeling measurement of cerebral perfusion in children with sickle cell disease S Gevers, AJ Nederveen, K Fijnvandraat, SM van den Berg, P van Ooij, ... Journal of Magnetic Resonance Imaging 35 (4), 779-787, 2012 | 77 | 2012 |
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia FM Vaz, JH McDermott, M Alders, SB Wortmann, S Kölker, ... Brain 142 (11), 3382-3397, 2019 | 74 | 2019 |
Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy M de Beer, M Engelen, BM van Geel Neurology 83 (24), 2227-2231, 2014 | 74 | 2014 |
Volume of white matter hyperintensities is an independent predictor of intelligence quotient and processing speed in children with sickle cell disease V van der Land, CT Hijmans, M de Ruiter, HJMM Mutsaerts, MH Cnossen, ... British journal of haematology 168 (4), 553-556, 2015 | 71 | 2015 |
Lovastatin in X-linked adrenoleukodystrophy M Engelen, R Ofman, MGW Dijkgraaf, M Hijzen, LA van der Wardt, ... New England Journal of Medicine 362 (3), 276-277, 2010 | 67 | 2010 |
Effect of in vivo fetal infusion of dexamethasone at 0.75 GA on fetal ovine resistance artery responses to ET-1 CC Docherty, J Kalmar-Nagy, M Engelen, SV Koenen, M Nijland, RE Kuc, ... American Journal of Physiology-Regulatory, Integrative and Comparative …, 2001 | 67 | 2001 |
Development of fetal vascular responses to endothelin-1 and acetylcholine in the sheep CC Docherty, J Kalmar-Nagy, M Engelen, PW Nathanielsz American Journal of Physiology-Regulatory, Integrative and Comparative …, 2001 | 64 | 2001 |
Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study CL De Mol, YYM Wong, ED Van Pelt, IA Ketelslegers, DP Bakker, M Boon, ... Journal of Neurology 265, 1310-1319, 2018 | 59 | 2018 |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ... Journal of Medical Genetics 55 (2), 104-113, 2018 | 58 | 2018 |
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study BM van Geel, BT Poll-The, A Verrips, JJ Boelens, S Kemp, M Engelen Journal of inherited metabolic disease 38, 359-361, 2015 | 57 | 2015 |
Disease progression in women with X-linked adrenoleukodystrophy is slow IC Huffnagel, MGW Dijkgraaf, GE Janssens, M van Weeghel, ... Orphanet Journal of Rare Diseases 14 (1), 1-15, 2019 | 51 | 2019 |
Comparison of C26: 0-carnitine and C26: 0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy IC Huffnagel, MC van de Beek, AL Showers, JJ Orsini, FCC Klouwer, ... Molecular genetics and metabolism 122 (4), 209-215, 2017 | 49 | 2017 |