| 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 | 454 | 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 | 212 | 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 | 199 | 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 | 195 | 2015 |
| Translational studies in X-linked adrenoleukodystrophy M Engelen Orphanet journal of rare diseases 7 (1), 51, 2012 | 164 | 2012 |
| X-linked adrenoleukodystrophy: pathogenesis and treatment M Engelen, S Kemp, BT Poll-The Current neurology and neuroscience reports 14, 1-8, 2014 | 156 | 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 | 102 | 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 | 89 | 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 | 81 | 2016 |
| 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 | 80 | 2019 |
| 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 | 78 | 2012 |
| Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy M de Beer, M Engelen, BM van Geel Neurology 83 (24), 2227-2231, 2014 | 75 | 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 | 73 | 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 | 69 | 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 | 69 | 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 |
| 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 | 63 | 2018 |
| 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 |
| 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 | 58 | 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 | 57 | 2019 |
Stephan KempAmsterdam University Medical Centers, the NetherlandsGeverifieerd e-mailadres voor amsterdamumc.nl
