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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
Abstract
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very long-chain fatty acids. A defect in the ABCD1 protein results in elevated levels of very long-chain fatty acids in plasma and tissues. The clinical spectrum in males with X-linked adrenoleukodystrophy has been well described and ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. As in many X-linked diseases, it was assumed that female carriers remain asymptomatic and only a few studies addressed the phenotype of X-linked adrenoleukodystrophy carriers. These studies, however, provided no information on the prevalence of neurological symptoms in the entire population of X-linked adrenoleukodystrophy carriers, since data were acquired in small groups and may be biased towards women with symptoms. Our primary goal was to investigate the symptoms and their frequency in X-linked adrenoleukodystrophy carriers. The secondary goal was to determine if the X-inactivation pattern of the ABCD1 gene was associated with symptomatic status. We included 46 X-linked adrenoleukodystrophy carriers in a prospective cross-sectional cohort study. Our data show that X-linked adrenoleukodystrophy carriers develop signs and symptoms of myelopathy (29/46, 63%) and/or peripheral neuropathy (26/46, 57%). Especially striking was the occurrence of faecal incontinence (13/46, 28%). The frequency of symptomatic women increased sharply with age (from 18% in women <40 years to 88% in women >60 years of age). Virtually all (44/45, 98%) X-linked adrenoleukodystrophy carriers had increased very long-chain fatty acids in plasma and/or fibroblasts, and/or decreased very long-chain fatty acids beta-oxidation in fibroblasts. We did not find an association between the X-inactivation pattern and symptomatic status. We conclude that X-linked adrenoleukodystrophy carriers develop an adrenomyeloneuropathy-like phenotype and there is a strong association between symptomatic status and age. X-linked adrenoleukodystrophy should be considered in the differential diagnosis in women with chronic myelopathy and/or peripheral neuropathy (especially with early faecal incontinence). ABCD1 mutation analysis deserves a place in diagnostic protocols for chronic non-compressive myelopathy.
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“It is becoming increasingly recognized that the majority of women are not merely carriers, but may develop some degree of myeloneuropathy leading to gait, bowel, and bladder dysfunction [14,15,63].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [14]
In the citing paper
“Peripheral neuropathy is a common feature of ALD but is rarely the presenting symptom.7,14-16”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [7]
In the citing paper
“Female patients with ALD remain asymptomatic in childhood and adolescence, while in adulthood, myeloneuropathy symptoms can arise.7,14”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [7]
In the citing paper
“Women develop myeloneuropathy; men can develop all 3 syndromes.7-9”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [7]
In the citing paper
“It was recently reported that all male and possibly even most female patients will develop at least some symptoms of AMN late in life and thus AMN has a near 100% lifetime penetrance.12,14,23”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [12]
In the citing paper
“A recent prospective cross-sectional cohort study including 46 heterozygous X-ALD females reported that 18% of women under the age of 40 years had symptoms but in the age group 60 years or older, 88% were symptomatic.12”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [12]
In the citing paper
“However, the majority of female carriers have elevated plasma VLCFA levels, although to a lesser extent than male patients, and the rate of beta-oxidation of VLCFAs was found to be decreased in fibroblasts.12”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [12]
In the citing paper
“During recent more detailed studies, it became apparent that a high number, if not all, of the heterozygous females develop at least some symptoms of AMN and that the severity of symptoms increases with age.12,24,89”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [12]
Citations
Cites
Rating neurologic impairment in multiple sclerosis: An expanded disability status scale (EDSS)
Kurtzke, J. F. (1983) · Neurology · doi:10.1212/wnl.33.11.1444 · Cited by 15,011
Aaronson, N. K., Muller, M., Cohen, P. D. A., Essink-Bot, M.-L., Fekkes, M., Sanderman, R., Sprangers, M. A. G., te Velde, A., & Verrips, E. (1998) · Journal of Clinical Epidemiology · doi:10.1016/s0895-4356(98)00097-3 · Cited by 2,276
X-inactivation profile reveals extensive variability in X-linked gene expression in females
Carrel, L., & Willard, H. F. (2005) · Nature · doi:10.1038/nature03479 · Cited by 2,097
PRELIMINARY TRIAL OF CARISOPRODOL IN MULTIPLE SCLEROSIS.
Ashworth, B. (1964) · PubMed · Cited by 1,475
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202
Self-citationEngelen, M., Kemp, S., de Visser, M., van Geel, B. M., Wanders, R. J., Aubourg, P., & Poll-The, B. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-51 · Cited by 562
Self-citationHereditary spastic paraplegia: clinical features and pathogenetic mechanisms
Salinas, S., Proukakis, C., Crosby, A., & Warner, T. T. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70258-8 · Cited by 474
Moser, H. (1981) · doi:10.1212/wnl.31.10.1241 · Cited by 396
Migeon, B. R., Moser, H. W., Moser, A. B., Axelman, J., Sillence, D., & Norum, R. A. (1981) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.78.8.5066 · Cited by 283
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters
van Roermund, C. W. T., Visser, W. F., IJlst, L., van Cruchten, A., Boek, M., Kulik, W., Waterham, H. R., & Wanders, R. J. A. (2008) · The FASEB Journal · doi:10.1096/fj.08-110866 · Cited by 233
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- van Geel, 2000, Draagsterschap van X-gebonden adrenoleukodystrofie, Ned Tijdschr Geneeskd, 144, 1764
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Sorted by citations
Items 101–200 of 235
Zuo, X., & Chen, Z. (2024) · Lipids in Health and Disease · doi:10.1186/s12944-024-02361-0 · Cited by 14
Ranea‐Robles, P., Galino, J., Espinosa, L., Schlüter, A., Ruíz, M., Calingasan, N. Y., Villarroya, F., Naudí, A., Pamplona, R., Ferrer, I., et al. (2021) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12747 · Cited by 10
Koutsis, G., Lynch, D. S., Tucci, A., Houlden, H., Karadima, G., & Πάνας, Μ. (2015) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2015.05.031 · Cited by 10
Mashima, R., Tanaka, M., Sakai, E., Nakajima, H., Kumagai, T., Kosuga, M., & Okuyama, T. (2016) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2016.02.007 · Cited by 10
Özgür-Günes, Y., Chedik, M., Le Stunff, C., Fovet, C.-M., & Bougnères, P. (2022) · Human Gene Therapy · doi:10.1089/hum.2021.293 · Cited by 10
Natarajan, A., Christopher, R., Netravathi, M., Bhat, M. D., & Chandra, S. R. (2019) · Clinica Chimica Acta · doi:10.1016/j.cca.2019.04.059 · Cited by 10
Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy
Grant, N. R., Li, Y., Abreu, L. D. L. R., Becker, C., Wishart, B. D., Nagy, A. M., Eichler, F., & Sadjadi, R. (2025) · Neurology · doi:10.1212/wnl.0000000000213370 · Cited by 9
Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy
Kachwala, I. A., & Regelmann, M. O. (2022) · International Journal of Neonatal Screening · doi:10.3390/ijns8010018 · Cited by 10
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Paláu-Hernández, S., Rodríguez‐Leyva, I., & Shiguetomi-Medina, J. M. (2019) · eNeurologicalSci · doi:10.1016/j.ensci.2019.01.007 · Cited by 8
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Engelen, M., & Kemp, S. (2025) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2024.6771 · Cited by 8
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van Ballegoij, W. J. C., Kuijpers, S. C., Huffnagel, I. C., Weinstein, H. C., Poll‐The, B. T., Engelen, M., Bennebroek, C. A. M., & Verbraak, F. D. (2019) · Journal of Neurology · doi:10.1007/s00415-019-09627-z · Cited by 9
Self-citationCampopiano, R., Femiano, C., Chiaravalloti, M. A., Ferese, R., Centonze, D., Buttari, F., Zampatti, S., Fanelli, M., Amatori, S., D'Alessio, C., et al. (2021) · Genes · doi:10.3390/genes12050775 · Cited by 8
Curiel, J., Steinberg, S. J., Bright, S., Snowden, A., Moser, A. B., Eichler, F., Dubbs, H. A., Hacia, J. G., Ely, J. J., Bezner, J., et al. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2017.08.012 · Cited by 8
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Bonaventura, E., Bruschi, F., Alberti, L., Antonello, C. E., Arrigoni, F., Balestriero, M. A., Borsani, B., Cappelletti, L., Cattaneo, E., Ferrario, M., et al. (2025) · International Journal of Neonatal Screening · doi:10.3390/ijns11040084 · Cited by 7
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de Paiva, A. R. B., Filho, C. R. P., Porto, A. M., Feltrin, F. S., Kok, F., & Camargo, C. H. F. (2018) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000000431 · Cited by 7
Dato, C., Capaldo, G., Terracciano, C., Napolitano, F., D’Amico, A., Pappatà, S., Santorelli, F. M., Iorio, G. D., Sampaolo, S., & Melone, M. A. B. (2018) · Radiology Case Reports · doi:10.1016/j.radcr.2018.11.007 · Cited by 7
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Dekker, M. C. J., Sadiq, A., Mclarty, R., Mbwasi, R. M., Willemsen, M. A. A. P., Waterham, H. R., & Hamel, B. C. J. (2019) · Case Reports in Genetics · doi:10.1155/2019/6148425 · Cited by 7
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van de Stadt, S. I. W., Schrantee, A., Huffnagel, I. C., van Ballegoij, W. J. C., Caan, M. W. A., Pouwels, P. J. W., & Engelen, M. (2021) · NeuroImage Clinical · doi:10.1016/j.nicl.2021.102793 · Cited by 7
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Liu, S., Li, L., Wu, H., Pei, P., Zheng, X., Pan, H., Bao, X., Qi, Y., & Ma, Y. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1844 · Cited by 7
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Umeda, K. (2022) · International Journal of Hematology · doi:10.1007/s12185-022-03361-5 · Cited by 7
Moser, A. B., Liu, Y., Shi, X., Schrifl, U., Hiebler, S., Fatemi, A. S., Braverman, N., Steinberg, S. J., & Watkins, P. A. (2021) · Journal of Cellular Biochemistry · doi:10.1002/jcb.30014 · Cited by 7
Mashima, R., & Maekawa, M. (2017) · Biomarkers in Medicine · doi:10.2217/bmm-2017-0225 · Cited by 8
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Horn, M. A., Retterstøl, L., Abdelnoor, M., Skjeldal, O. H., & Tallaksen, C. M. E. (2015) · Brain · doi:10.1093/brain/awu232 · Cited by 7
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Huang, J. Y., Freed, B., Hanus, M., Keefe, K., Chiang, M. S. R., Brezzani, A., Luo, Y., Li, Y., Lam, B., Holley, S., et al. (2025) · iScience · doi:10.1016/j.isci.2025.113248 · Cited by 6
Vasireddy, V., Maguire, C. A., Anderson, D. W., Ng, C., Gong, Y., Eichler, F., Fourcade, S., Guilera, C., Onieva, A., Sanchez, A., et al. (2024) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2024.101354 · Cited by 6
Self-citationShibata, Y., Matsushima, M., Matsukawa, T., Ishiura, H., Tsuji, S., & Yabe, I. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-00866-x · Cited by 6
Chang, C., Gupta, A. O., Orchard, P. J., Nascene, D. R., Kierstein, J., Tryon, R. K., & Lund, T. C. (2022) · F&S Reports · doi:10.1016/j.xfre.2022.12.005 · Cited by 6
RetractedPrinzi, J., Pasquali, M., Hobert, J. A., Palmquist, R. N., Wong, K. N., Francis, S., & Biase, I. D. (2023) · International Journal of Neonatal Screening · doi:10.3390/ijns9040064 · Cited by 7
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Wanders, R. J. A., Vaz, F. M., Ferdinandusse, S., Kemp, S., Ebberink, M. S., & Waterham, H. R. (2018) · Journal of Inborn Errors of Metabolism and Screening · doi:10.1177/2326409818810285 · Cited by 6
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Self-citationEngelen, M. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00021-1 · Cited by 5
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Videbæk, C. S., Grønborg, S. W., Lund, A. M., & Olesen, M. L. (2024) · International Journal of Neonatal Screening · doi:10.3390/ijns10040073 · Cited by 5
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Self-citationFadiga, L., Melo, M., Saraiva, J. C., & Paiva, I. (2021) · HORMONES · doi:10.1007/s42000-021-00325-y · Cited by 5
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Mao, C., Li, J., Huang, X., Wang, J., Chu, S., Zhang, Y., Dong, L., Liu, C., Lü, L., Qiu, L., et al. (2022) · Neurological Sciences · doi:10.1007/s10072-021-05859-y · Cited by 5
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Varma, A., Weinstein, J. S., Seabury, J., Rosero, S. J., Dilek, N., Heatwole, J. M., Engebrecht, C., Khosa, S., Chung, K., Paker, A. M., et al. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03129-6 · Cited by 7
Videbæk, C. S., Dunø, M., Lindquist, S. G., Larsen, V. A., Kjær, M. W., Melgaard, L., Nielsen, J. E., Grønborg, S. W., & Lund, A. M. (2025) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2025.109265 · Cited by 5
Koto, Y., Hadano, N., & Sakai, N. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03424-2 · Cited by 5
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Jiang, C. S., & Schrader, M. (2025) · Cells · doi:10.3390/cells14020147 · Cited by 4
Chen, Y., Zhang, J., Wang, J., & Wang, K. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00271 · Cited by 4
The, S. T., Trieu, T. S., Van, T. V., Ngoc, N. N., Thao, M. T. N., Van, K. T., Nhat, D. V., & Nhu, B. D. (2021) · The Application of Clinical Genetics · doi:10.2147/tacg.s318884 · Cited by 4
de Paiva, A. R. B., Neto, R. E. F., Afonso, C. L., Freua, F., Nóbrega, P. R., & Kok, F. (2022) · European Journal of Neurology · doi:10.1111/ene.15298 · Cited by 4
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Ganesh, A., Al-Murshedi, F., Al-Zuhaibi, S. S., & Al‐Thihli, K. (2017) · Springer eBooks · doi:10.1007/978-3-319-18389-3_13 · Cited by 5
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Hsu, S.-L., Chen, Y.-H., Chou, C.-T., Chou, Y.-T., Tsai, Y.-S., Hsiao, C.-T., Liao, Y.-C., & Lee, Y.-C. (2021) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2021.10.006 · Cited by 3
Chapleau, A., Perrier, S., Durcan, T. M., & Bernard, G. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00533-0 · Cited by 3
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Self-citationSriretnakumar, V., Harripaul, R., Kennedy, J., & So, J. (2021) · bioRxiv · doi:10.1002/ajmg.a.63609 · Cited by 4
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Margoni, M., Soli, F., Sangalli, A., Bellizzi, M., Cecchini, E., & Buganza, M. (2017) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2017.05.025 · Cited by 3
Jones, T. A., Schulze, J., Aufox, S. A., Rothstein, J., & Arjunan, A. (2022) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-022-02430-2 · Cited by 3
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Morita, M. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_8 · Cited by 2
Shimozawa, N. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_5 · Cited by 2
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(2016) · Elsevier eBooks · doi:10.1016/b978-0-323-37754-6.50243-8 · Cited by 1
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Self-citationYoon, B. A., Kim, J., Lee, G. B., Kim, J. W., & Cheon, S. (2018) · Journal of the Korean Neurological Association · doi:10.17340/jkna.2018.1.7
Wang, S. Z., Fernández, M. Á., Miras, P. M., Merino, N. M., López, E. H., & Alameda, L. E. M. (2018) · Revista Española de Anestesiología y Reanimación · doi:10.1016/j.redar.2018.08.006
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Zhou, Y. (2020) · E3S Web of Conferences · doi:10.1051/e3sconf/202014501008
Paunovic, S., Koehler, W., & Knechtle, B. (2021) · Praxis · doi:10.1024/1661-8157/a003674
Salsano, E., & Pareyson, D. (2015) · Springer eBooks · doi:10.1007/978-88-470-5755-5_14
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Metadata
- Authors
- 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., de Visser, M., Poll–The, B. T., & Kemp, S.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Assistance Publique – Hôpitaux de Paris (FR)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-01-29
- Volume
- 137
- Issue
- 3
- Pages
- 693-706
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2150643970
- Cited by
- 234
- References
- 48
- Citations by year
- 2026: 15 · 2025: 17 · 2024: 23 · 2023: 10 · 2022: 28 · 2021: 35 · 2020: 19 · 2019: 18 · 2018: 18 · 2017: 9 · 2016: 14 · 2015: 16 · 2014: 11
- FWCI
- 11.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- female carriers, ABCD1 gene, peroxisomal disorders, very long chain fatty acids, adrenomyeloneuropathy, myelopathy, peripheral neuropathy, fecal incontinence, X chromosome inactivation, peroxisomal beta-oxidation, differential diagnosis
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Adult, Age Factors, Aged, Cross-Sectional Studies, Evoked Potentials, Female, Heterozygote, Humans, Middle Aged, Peripheral Nervous System Diseases, Prospective Studies, Spinal Cord Diseases, Cohort Studies, ATP-Binding Cassette Transporters, X Chromosome Inactivation, Young Adult
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