Publications Team ALD

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy.
van Ballegoij WJC, van de Stadt SIW, Huffnagel IC, Kemp S, van der Knaap MS, Engelen M.
Front Physiol. 2020 Jul 17;11:786. PMID: 32765293

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy.
Richmond PA, van der Kloet F, Vaz FM, Lin D, Uzozie A, Graham E, Kobor M, Mostafavi S, Moerland PD, Lange PF, van Kampen AHC, Wasserman WW, Engelen M, Kemp S, van Karnebeek CDM.
Front Cell Dev Biol. 2020 Jun 25;8:520. PMID: 32671069

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S.
Front Cell Dev Biol. 2020 Jun 17;8:499. PMID: 32626714

Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy.
van de Stadt SIW, van Ballegoij WJC, Labounek R, Huffnagel IC, Kemp S, Nestrasil I, Engelen M.
J Inherit Metab Dis. 2020 Jul;43(4):852-860. PMID: 32077106

Longitudinal diffusion MRI as surrogate outcome measure for myelopathy in adrenoleukodystrophy.
Huffnagel IC, van Ballegoij WJC, Vos JMBW, Kemp S, Caan MWA, Engelen M.
Neurology. 2019 Dec 3;93(23):e2133-e2143. PMID: 31719133

Disease progression in women with X-linked adrenoleukodystrophy is slow.
Huffnagel IC, Dijkgraaf MGW, Janssens GE, van Weeghel M, van Geel BM, Poll-The BT, Kemp S, Engelen M.
Orphanet J Rare Dis. 2019 Feb 7;14(1):30. PMID: 30732635

Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness.
Huffnagel IC, van Ballegoij WJC, van Geel BM, Vos JMBW, Kemp S, Engelen M.
Brain. 2019 Feb 1;142(2):334-343. PMID: 30535170

The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.
Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F.
J Clin Endocrinol Metab. 2019 Jan 1;104(1):118-126. PMID: 30252065

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.
Huffnagel IC, van de Beek MC, Showers AL, Orsini JJ, Klouwer FCC, Dijkstra IME, Schielen PC, van Lenthe H, Wanders RJA, Vaz FM, Morrissey MA, Engelen M, Kemp S.
Mol Genet Metab. 2017 Dec;122(4):209-215. PMID: 29089175

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.
van de Beek MC, Ofman R, Dijkstra I, Wijburg F, Engelen M, Wanders R, Kemp S.
Biochim Biophys Acta Mol Basis Dis. 2017 Sep;1863(9):2255-2265. PMID: 28666219

Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history.
Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M.
Nat Rev Endocrinol. 2016 Oct;12(10):606-15. PMID: 27312864

26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.
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.
PLoS One. 2016 Apr 28;11(4):e0154597. PMID: 27124591

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann MJ, Ofman R, van Geel BM, Dijkstra IM, van Engelen K, Wanders RJ, Engelen M, Kemp S.
Mol Genet Metab. 2016 Jun;118(2):123-7. PMID: 27067449

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.
van Geel BM, Poll-The BT, Verrips A, Boelens JJ, Kemp S, Engelen M.
J Inherit Metab Dis. 2015 Mar;38(2):359-61. PMID: 25488625

X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT.
Curr Neurol Neurosci Rep. 2014 Oct;14(10):486. PMID: 25115486

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.
Brain. 2015 Feb;138(Pt 2):e326. PMID: 25149411

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.
Brain. 2014 Mar;137(Pt 3):693-706. PMID: 24480483

Comment on the paper “Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit”.
Engelen M, Ofman R, Dijkgraaf M, van Geel B, de Visser M, Wanders R, Poll-The BT, Kemp S.
Clin Neurol Neurosurg. 2013 Nov;115(11):2401-2. PMID: 24018110

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT.
Orphanet J Rare Dis. 2012 Aug 13;7:51. PMID: 22889154

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
Engelen M, Schackmann MJ, Ofman R, Sanders RJ, Dijkstra IM, Houten SM, Fourcade S, Pujol A, Poll-The BT, Wanders RJ, Kemp S.
J Inherit Metab Dis. 2012 Nov;35(6):1137-45. PMID: 22447153

Bezafibrate for X-linked adrenoleukodystrophy.
Engelen M, Tran L, Ofman R, Brennecke J, Moser AB, Dijkstra IM, Wanders RJ, Poll-The BT, Kemp S.
PLoS One. 2012;7(7):e41013. PMID: 22911730

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
Engelen M, van der Kooi AJ, Kemp S, Wanders RJ, Sistermans EA, Waterham HR, Koelman JT, van Geel BM, de Visser M.
J Peripher Nerv Syst. 2011 Dec;16(4):353-5. PMID: 22176151

Lovastatin in X-linked adrenoleukodystrophy.
Engelen M, Ofman R, Dijkgraaf MG, Hijzen M, van der Wardt LA, van Geel BM, de Visser M, Wanders RJ, Poll-The BT, Kemp S.
N Engl J Med. 2010 Jan 21;362(3):276-7. PMID: 20089986

[From gene to disease; X-linked adrenoleukodystrophy].
Engelen M, Kemp S, van Geel BM.
Ned Tijdschr Geneeskd. 2008 Apr 5;152(14):804-8. PMID: 18491823

Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.
Engelen M, Ofman R, Mooijer PA, Poll-The BT, Wanders RJ, Kemp S.
Biochim Biophys Acta. 2008 Mar;1781(3):105-11. PMID: 18206987

Last modified | 2020-08-31