Engelen, Marc

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Engelen, M., Kemp, S., de Visser, M., van Geel, B. M., Wanders, R. J., Aubourg, P., & Poll-The, B. (2012) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 562

Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history

Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 275

X-linked adrenoleukodystrophy in women: A cross-sectional cohort study

Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., et al. (2014) · Brain

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 234

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Engelen, M., Kemp, S., & Poll-The, B.-T. (2014) · Current Neurology and Neuroscience Reports

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 187

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 156

The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration

Huffnagel, I. C., Laheji, F. K., Aziz-Bose, R., Tritos, N. A., Marino, R., Linthorst, G. E., Kemp, S., Engelen, M., & Eichler, F. (2019) · The Journal of Clinical Endocrinology & Metabolism

Metabolism and Genetic DisordersAdrenal Hormones and Disorders

Cited by 147

Disease progression in women with X-linked adrenoleukodystrophy is slow

Huffnagel, I. C., Dijkgraaf, M. G. W., Janssens, G. E., van Weeghel, M., van Geel, B. M., Poll-The, B. T., Kemp, S., & Engelen, M. (2019) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 100

Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy

de Beer, M., Engelen, M., & van Geel, B. M. (2014) · Neurology

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 97

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: A retrospective study

van Geel, B. M., Poll‐The, B. T., Verrips, A., Boelens, J., Kemp, S., & Engelen, M. (2015) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 78

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

Huffnagel, I. C., van de Beek, M.-C., Showers, A. L., Orsini, J. J., Klouwer, F. C. C., Dijkstra, I. M. E., Schielen, P. C., van Lenthe, H., Wanders, R. J. A., Vaz, F. M., et al. (2017) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 71

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders

Jaspers, Y. R. J., Ferdinandusse, S., Dijkstra, I. M. E., Barendsen, R. W., van Lenthe, H., Kulik, W., Engelen, M., Goorden, S. M. I., Vaz, F. M., & Kemp, S. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 69

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., et al. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 65

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Mallack, E. J., Gao, K., Engelen, M., & Kemp, S. (2022) · Cells

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 60

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): A randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial

Köhler, W., Engelen, M., Eichler, F., Lachmann, R., Fatemi, A., Sampson, J., Salsano, E., Gamez, J., Molnar, M. J., Pascual, S., et al. (2023) · The Lancet Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 48

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

van de Beek, M.-C., Dijkstra, I. M. E., van Lenthe, H., Ofman, R., Goldhaber-Pasillas, D., Schauer, N., Schackmann, M., Engelen-Lee, J.-Y., Vaz, F. M., Kulik, W., et al. (2016) · PLOS ONE

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 48

Risk factor analysis of cerebral white matter hyperintensities in children with sickle cell disease

van der Land, V., Mutsaerts, H. J. M. M., Engelen, M., Heijboer, H., Roest, M., Hollestelle, M. J., Kuijpers, T. W., Nederkoorn, P. J., Cnossen, M. H., Majoie, C. B. L. M., et al. (2016) · British Journal of Haematology

Hemoglobinopathies and Related DisordersAdvanced MRI Techniques and Applications

Cited by 30

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

Richmond, P. A., van der Kloet, F., Vaz, F. M., Lin, D., Uzozie, A., Graham, E., Kobor, M., Mostafavi, S., Moerland, P. D., Lange, P. F., et al. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 29

The pathology of X-linked adrenoleukodystrophy: Tissue specific changes as a clue to pathophysiology

Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 20

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

van de Stadt, S. I. W., Mooyer, P. A. W., Dijkstra, I. M. E., Dekker, C. J. M., Vats, D., Vera, M., Ruzhnikov, M. R. Z., van Haren, K., Tang, N., Koop, K., et al. (2021) · Genes

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 14

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

Engelen, M., van der Kooi, A. J., Kemp, S., Wanders, R. J. A., Sistermans, E. A., Waterham, H. R., Koelman, J. T. M., van Geel, B. M., & de Visser, M. (2011) · Journal of the Peripheral Nervous System

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 12

Treatment of leukodystrophies: Advances and challenges.

Wolf, N. I., van der Knaap, M. S., & Engelen, M. (2025) · European Journal of Paediatric Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 11

The variability conundrum in neurometabolic degenerative diseases

van Karnebeek, C. D. M., Richmond, P. A., van der Kloet, F., Wasserman, W. W., Engelen, M., & Kemp, S. (2020) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 4