Huffnagel IC, van Ballegoij WJC, Vos JMBW, Kemp S, Caan MWA, Engelen M. (2019) Longitudinal diffusion MRI as surrogate outcome measure for myelopathy in adrenoleukodystrophy. Neurology. Nov 12. doi: 10.1212/WNL.0000000000008572.
van Ballegoij WJC, Kuijpers SC, Huffnagel IC, Weinstein HC, Poll-The BT, Engelen M, Bennebroek CAM, Verbraak FD. (2019) Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy. J Neurol. Nov 12. doi: 10.1007/s00415-019-09627-z.
Buermans NJML, van den Bosch SJG, Huffnagel IC, Steenweg ME, Engelen M, Oostrom KJ, Geurtsen GJ. (2019) Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI. Orphanet J Rare Dis. 14(1):217.
Gong Y, Berenson A, Laheji F, Gao G, Wang D, Ng C, Volak A, Kok R, Kreouzis V, Dijkstra I, Kemp S, Maguire CA, Eichler F (2019) Intrathecal Adeno-Associated Virus Vector-mediated Gene Delivery for Adrenomyeloneuropathy. Hum Gene Ther. 30(5):544-555.
van Haren K, Engelen M, Wolf N. (2019) Measuring early lesion growth in boys with cerebral demyelinating adrenoleukodystrophy. Neurology. 92(15):691-693.
Huffnagel IC, Dijkgraaf MGW, Janssens GE, van Weeghel M, van Geel BM, Poll-The BT, Kemp S, Engelen M (2019) Disease progression in women with X-linked adrenoleukodystrophy is slow. Orphanet J Rare Dis. 14(1):30.
Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F (2019) The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration. J Clin Endocrinol Metab. 104(1):118-126.
Huffnagel IC, van Ballegoij WJC, van Geel BM, Vos JMBW, Kemp S, Engelen M (2019) Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness. Brain 142(2):334-343.
Morita M, Matsumoto S, Sato A, Inoue K, Kostsin DG, Yamazaki K, Kawaguchi K, Shimozawa N, Kemp S, Wanders RJ, Kojima H, Okabe T, Imanaka T (2018) Stability of the ABCD1 protein with a missense mutation: A novel approach to finding therapeutic compounds for X-linked adrenoleukodystrophy. JIMD Rep. 2018 44:23-31.
Huffnagel IC, van de Beek MC, Showers AL, Orsini JJ, Klouwer FC, Dijkstra IM, Schielen PC, van Lenthe H, Wanders RJ, Vaz FM, Morrissey MA, Engelen M, Kemp S (2017) Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy. Mol Genet Metab. 122(4):209-215.
Engelen M. (2017) Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy. N Engl J Med. 377(17):1682-1684.
Van de Beek MC, Ofman R, Dijkstra I, Wijburg F, Engelen M, Wanders R, Kemp S. (2017) Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy. Biochim Biophys Acta. 1863(9):2255-2265.
Van Haren K, Engelen M. (2017) Decision Making in Adrenoleukodystrophy. When Is a Good Outcome Really a Good Outcome? JAMA Neurol. 74(6):641-642.
Van de Beek MC, Dijkstra IM, Kemp S. (2017) Method for Measurement of Peroxisomal Very Long-Chain Fatty Acid Beta-Oxidation and De Novo C26:0 Synthesis Activity in Living Cells Using Stable-Isotope Labeled Docosanoic Acid. Methods Mol Biol. 1595:45-54.
Van Engen CE, Ofman R, Dijkstra IM, van Goethem TJ, Verheij E, Varin J, Vidaud M, Wanders RJ, Aubourg P, Kemp S, Barbier M. (2016) CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids. Biochim Biophys Acta. 1862(10):1861-1870.
Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M. (2016) Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol. 12(10):606-15.
Klouwer FC, Huffnagel IC, Ferdinandusse S, Waterham HR, Wanders RJ, Engelen M, Poll-The BT. (2016) Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders. Neuropediatrics. 47(4):205-20.
Van de Beek MC, Dijkstra IM, van Lenthe H, Ofman R, Goldhaber-Pasillas D, Schauer N, Schackmann M, Engelen-Lee JY, Vaz FM, Kulik W, Wanders RJ, Engelen M, Kemp S. (2016) C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man. PLoS One. 11(4):e0154597.
Schackmann MJ, Ofman R, van Geel BM, Dijkstra IM, van Engelen K, Wanders RJ, Engelen M, Kemp S. (2016) Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics. Mol Genet Metab. 118(2):123-7
Schackmann MJ, Ofman R, Dijkstra IM, Wanders RJ, Kemp S. (2015) Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis. Biochim Biophys Acta. 1851(2):231-7.
van Geel B, Poll-The B, Verrips A, Boelens JJ, Kemp S, Engelen M. (2015) Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study. J Inherit Met Dis. 38(2):359-361.
De Beer, M, Engelen M, van Geel BM. (2014) Frequent occurence of cerebral demyelination in adrenomyeloneuropathy. Neurology. 83(24): 2227-31.
Engelen M, Kemp S, Poll – The B. (2014) X-linked adrenoleukodystrophy (X-ALD): pathogenesis and treatment. Curr Neurol Neurosci Rep. 14(10): 486.
Kemp S. (2014) Molecular genetics of X-linked adrenoleukodystrophy. In: The electronic Library of Science (eLS). John Wiley & Sons, Ltd: Chichester. a0024277.
Engelen M, Barbier M, Dijkstra I, Schür R, de Bie R, Verhamme C, Dijkgraaf M, Aubourg P, Wanders R, van Geel B, de Visser M, Poll – The B, Kemp S (2014) X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain. 137(Pt 3):693-706.
Engelen M, Ofman R, Dijkgraaf M, van Geel B, de Visser M, Wanders R, Poll BT, Kemp S. (2013) Comment on the paper “Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: A revisit”, Clin Neurol Neurosurg. 115(11):2401-2.
Amorosi CA, Myskóva H, Monti MR, Argaraña CE, Morita M, Kemp S, de Kremer RD, Dvoráková L, de Ramírez AM (2012) X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients. PLoS One. 7(12):e52635.
Engelen M, Tran L, Ofman R, Brennecke J, Moser AB, Dijkstra IM, Wanders RJ, Poll-The BT, Kemp S (2012) Bezafibrate for X-linked adrenoleukodystrophy. PLoS One. 7(7):e41013.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT (2012) X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 13(7):51.
Kemp S, Berger J, Aubourg P (2012) X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects. BBA-Mol Basis Dis. 1822(9):1465-74.
Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR (2012) A novel defect of peroxisome division due to a homozygous nonsense mutation in the PEX11β gene. J Med Genet. 49(5):307-13.
Engelen M, Schackmann MJ, Ofman R, Sanders RJ, Dijkstra IM, Houten SM, Fourcade S, Pujol A, Poll-The BT, Wanders RJ, Kemp S (2012) Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation. J Inherit Metab Dis. 35(6):1137-45.
Engelen M, van der Kooi AJ, Kemp S, Wanders RJ, Sistermans EA, Waterham HR, Koelman JT, van Geel BM, de Visser M (2012) X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy. J Peripher Nerv Syst. 16(4):353-5.
Krasemann E, Kemp S, Gal A (2012) Clinical utility gene card for: adrenoleukodystrophy. Eur J Hum Genet. 20 (3): doi: 10.1038/ejhg.2011.193.
Kemp S, Theodoulou FL, Wanders RJ (2011) Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. Brit J Pharmacol. 164(7):1753-66.
Zhang X, De Marcos Lousa C, Schutte-Lensink N, Ofman R, Wanders RJ, Baldwin SA, Baker A, Kemp S, Theodoulou FL (2011) Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression. Biochem J. 436(3):547-57.
Wanders RJA, Komen J and Kemp S (2011) Fatty acid omega oxidation as a rescue pathway for various fatty acid oxidation disorders in humans. FEBS J. 278(2):182-94.
Gautron AS, Giquel B, Beaudoin L, Autrusseau E, Speak A, Platt F, Kemp S, Pujol A, Aubourg P and Lehuen A (2010) Invariant NKT cells in adrenoleukodystrophy patients and mice. J Neuroimmunol. 229(1-2):204-11.
Kemp S and Wanders RJ (2010) Biochemical aspects of X-linked adrenoleukodystrophy. Brain Pathol. 20(4):831–837.
Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JM, Wirth B, Pamplona R, Aubourg P and Pujol A (2010) Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Hum Mol Genet. 19(10):2005-14.
Ofman R, Dijkstra IME, van Roermund CWT, Burger N, Turkenburg M, van Cruchten A, van Engen CE, Wanders RJA and Kemp S (2010) The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med. 2(3):90-97.
Engelen M, Ofman R, Dijkgraaf MGW, Hijzen M, v.d. Wardt LA, van Geel BM, de Visser M, Wanders RJA, Poll-The BT, Kemp S (2010) Lovastatin in X-Linked Adrenoleukodystrophy. New Engl J Med. 362(3):276-277.
Wanders RJ, Ferdinandusse S, Brites P, Kemp S (2010) Peroxisomes, lipid metabolism and lipotoxicity. Biochim Biophys Acta. 1801:272–280.
Fourcade S, López-Erauskin J, Galino J, Duval C, Naudi A, Jove M, Kemp S, Villarroya F, Ferrer I, Pamplona R, Portero-Otin M, Pujol A (2008) Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. Hum Mol Genet. 17(12):1762-73.
Sanders RJ, Ofman R, Dacremont G, Wanders RJA, Kemp S (2008) Characterization of the human ω-oxidation pathway for ω-hydroxy-very long-chain fatty acids. FASEB Journal. 22(6):2064-71.
Engelen M, Ofman R, Mooijer PAW, Poll – The BT, Wanders RJA, Kemp S (2008) Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy. Biochim Biophys Acta. 1781(3):105-111.
Kemp S and Wanders RJ (2007) X-linked Adrenoleukodystrophy: very long-chain fatty acid metabolism, half ABC-transporters and the complicated route to treatment. Mol Genet Metab. 90(3):268-276.
Wanders RJA, Visser WF, van Roermund CWT, Kemp S, Waterham HR (2007) The peroxisomal ABC-transporter family (ABCD). Pflug Arch Eur J Phy. 453(5):719-734.
Linnebank M, Semmler A, Kleijer WJ, van der Sterre MLT, Gärtner J, Fliessbach K, Sokolowski P, Köhler W, Schlegel U, Klockgether T, Wanders RJA, Schmidt S, Wüllner U, Kemp S (2006) The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy. Hum Mutat. 27(10):1063-4.
Sanders RJ, Ofman R, Duran M, Kemp S, Wanders RJ (2006) Omega-oxidation of very long-chain fatty acids in human liver microsomes: Implications for X-linked adrenoleukodystrophy. J Biol Chem. 281(19):13180-7.
Linnebank M, Kemp S, Wanders RJ, Kleijer WJ, van der Sterre ML, Gartner J, Fliessbach K, Semmler A, Sokolowski P, Kohler W, Schlegel U, Schmidt S, Klockgether T, Wullner U (2006) Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy. Neurology. 66(3):442-3.
Gueugnon F, Volodina N, Taouil JE, Lopez TE, Gondcaille C, Grand AS, Mooijer PA, Kemp S, Wanders RJ, Savary S (2006) A novel cell model to study the function of the adrenoleukodystrophy-related protein. Biochem Biophys Res Commun. 341(1):150-7.
Ferrer I, Kapfhammer J, Hindelang C, Kemp S, Troffer-Charlier N, Broccoli V, Callyzot N, Mooyer P, Selhorst J, Vreken P, Wanders RJ, Mandel JL, Pujol A (2005) Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmatic reticulum damage. Hum Mol Genet. 14(23):3565-77.
Oezen I, Rossmanith W, Forss-Petter S, Kemp S, Voigtlander T, Moser-Thier K, Wanders R, Bittner R, Berger J (2005) Accumulation of Very Long-Chain Fatty Acids does not Affect Mitochondrial Function in Adrenoleukodystrophy Protein Deficiency. Hum Mol Genet. 14(9):1127-37.
Sanders RJ, Ofman R, Valianpour F, Kemp S, Wanders RJ (2005) Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes. J Lipid Res. 46(5):1001-8.
Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ (2005) Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. Mol Genet Metab. 84(2):144-51.
Kemp S, Valianpour F, Mooyer PA, Kulik W, Wanders RJ (2004) Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid. Clin Chem. 50(10):1824-6.
Valianpour F, Selhorst JJM, van Lint LEM, van Gennip AH, Wanders RJA, Kemp S (2003) Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry (ESI-MS). Mol Genet Metab. 79(3):189-196.
Heinzer AK, Watkins PA, Lu JF, Kemp S, Moser AB, Li YY, Mihalik S, Powers JM, Smith KD (2003) A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy. Hum Mol Genet. 12(10):1145-54.
Heinzer AK, Kemp S, Lu JF, Watkins PA, Smith KD (2002) Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy. J Biol Chem. 277(32):28765-73.
Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW (2001) ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 8(6):499-515.
Wei HM, Kemp S, McGuinness MC, Moser AB, Smith KD (2000) Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Ann Neurol. 47(3): 286-296.
Steinberg SJ, Kemp S, Braiterman LT, Watkins PA (1999) Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy. Ann Neurol. 46(3): 409-412.
Moser HW, Kemp S, Smith KD (1999) Mutational analysis and the pathogenesis of variant X-linked adrenoleukodystrophy phenotypes. Arch Neurol. 56: 273-275.
Smith KD, Kemp S, Braiterman LT, Lu JF, Wei HM, Stetten G, Bergin JS, Pevsner J, Watkins PA (1999) X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes. Neurochem Res. 24:511-525.
Kemp S, Wei HM, Lu JF, Braiterman LT, McGuinness MC, Watkins PA, Moser AB, Smith KD (1998) Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy. Nat Med. 4:1261-1268.
Kemp S, Mooyer PA, Bolhuis PA, van Geel BM, Mandel JL, Barth PG, Aubourg P, Wanders RJA (1996) ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy. J Inherit Metab Dis. 19(5):667-674.
Kemp S, Ligtenberg MJL, van Geel BM, Barth PG, Sarde CO, van Oost BA, Bolhuis PA (1995) Two intronic mutations in the adrenoleukodystrophy gene. Hum Mutat. 6:272-273.
Ligtenberg MJL, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA (1995) Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet. 56:44-50.
Kemp S, Ligtenberg MJL, van Geel BM, Barth PG, Wolterman RA, Schoute F, Sarde CO, Mandel JL, van Oost BA, Bolhuis PA (1994) Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot for mutations. Biochem Biophys Res Commun. 202:647-653.
