Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history

The Metabolic and Molecular Bases of Inherited Disease

Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101 · see citing works

The metabolic and molecular bases of inherited disease

Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928 · see citing works

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Veres, G., Schmidt, M., Kutschera, I., Vidaud, M., Abel, U., Dal-Cortivo, L., Caccavelli, L., et al. (2009) · Science · doi:10.1126/science.1171242 · Cited by 1,508 · see citing works

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 · see citing works

Molecular networks as sensors and drivers of common human diseases

Schadt, E. E. (2009) · Nature · doi:10.1038/nature08454 · Cited by 806 · see citing works

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 · doi:10.1186/1750-1172-7-51 · Cited by 562 · see citing works

Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases

Schaumburg, H. H. (1975) · Archives of Neurology · doi:10.1001/archneur.1975.00490510033001 · Cited by 475 · see citing works

Qualitative alteration in substrate specificity of mitochondrial monoamine oxidase in brain

Moskvitina, T. A., Kamyshanskaya, N. S., Kaverina, L. P., & Gorkin, V. Z. (1976) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1976.tb04462.x · Cited by 440 · see citing works

Magnetic Resonance of Myelination and Myelin Disorders

van der Knaap, M. S., & Valk, J. (2005) · Springer eBooks · doi:10.1007/3-540-27660-2 · Cited by 397 · see citing works

Untitled work

Moser, H. (1981) · doi:10.1212/wnl.31.10.1241 · Cited by 396 · see citing works

Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999

Peters, C., Charnas, L. R., Tan, Y., Ziegler, R. S., Shapiro, E. G., DeFor, T., Grewal, S. S., Orchard, P. J., Abel, S. L., Goldman, A. I., et al. (2004) · Blood · doi:10.1182/blood-2003-10-3402 · Cited by 374 · see citing works

Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

Aubourg, P., Blanche, S., Jambaqué, I., Rocchiccioli, F., Kalifa, G., Naud-Saudreau, C., Rolland, M.-O., Debré, M., Chaussain, J.-L., Griscelli, C., et al. (1990) · New England Journal of Medicine · doi:10.1056/nejm199006283222607 · Cited by 366 · see citing works

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works

Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy

Shapiro, E., Krivit, W., Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02629-5 · Cited by 329 · see citing works

Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening

Bezman, L., Moser, A. B., Raymond, G. V., Rinaldo, P., Watkins, P. A., Smith, K. D., Kass, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101 · Cited by 324 · see citing works

Adrenoleukodystrophy: a scoring method for brain MR observations.

(1994) · PubMed Central · Cited by 321 · see citing works

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

Miller, W. P., Rothman, S. M., Nascene, D., Kivisto, T., DeFor, T. E., Ziegler, R. S., Eisengart, J., Leiser, K., Raymond, G., Lund, T. C., et al. (2011) · Blood · doi:10.1182/blood-2011-01-329235 · Cited by 290 · see citing works

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

Kemp, S., Berger, J., & Aubourg, P. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.012 · Cited by 283 · see citing works

Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy

Loes, D. J., Fatemi, A., Melhem, E. R., Gupte, N., Bezman, L., Moser, H. W., & Raymond, G. V. (2003) · Neurology · doi:10.1212/01.wnl.0000079050.91337.83 · Cited by 268 · see citing works

Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy

Kemp, S., Wei, H.-M., Lu, J.-F., Braiterman, L. T., McGuinness, M. C., Moser, A. B., Watkins, P. A., & Smith, K. D. (1998) · Nature Medicine · doi:10.1038/3242 · Cited by 249 · see citing works

The morbid anatomy of the demyelinative diseases

Adams, R. D., & Kubik, C. S. (1952) · The American Journal of Medicine · doi:10.1016/0002-9343(52)90234-9 · Cited by 245 · see citing works

A Two-Year Trial of Oleic and Erucic Acids (“Lorenzo's Oil”) as Treatment for Adrenomyeloneuropathy

Aubourg, P., Adamsbaum, C., Lavallard-Rousseau, M.-C., Rocchiccioli, F., Cartier, N., Jambaque, I., Jakobezak, C., Lemaitre, A., Boureau, F., Wolf, C., et al. (1993) · New England Journal of Medicine · doi:10.1056/nejm199309093291101 · Cited by 242 · see citing works

Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil

Moser, H. W., Raymond, G. V., Lu, S.-E., Muenz, L. R., Moser, A. B., Xu, J., Jones, R. O., Loes, D. J., Melhem, E. R., Dubey, P., et al. (2005) · Archives of Neurology · doi:10.1001/archneur.62.7.1073 · Cited by 239 · see citing works

Adrenoleukodystrophy: Phenotypic variability and implications for therapy

Moser, H. W., Moser, A. B., Smith, K. D., Bergin, A., Borel, J., Shankroff, J., Stine, O. C., Merette, C., Ott, J., Krivit, W., et al. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799621 · Cited by 239 · see citing works

Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening

Bezman, L., Moser, A. B., Raymond, G. V., Watkins, P. A., Smith, K. D., KASS, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101.abs · Cited by 237 · see citing works

Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes

Singh, I., Moser, A. E., Moser, H. W., & Kishimoto, Y. (1984) · Pediatric Research · doi:10.1203/00006450-198403000-00016 · Cited by 234 · see citing works

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 · doi:10.1093/brain/awt361 · Cited by 234 · see citing works

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 · see citing works

Adrenomyeloneuropathy

Griffin, J. W., Goren, E. N., Schaumburg, H. H., Engel, W. K., & LORIAUX, L. D. (1977) · Neurology · doi:10.1212/wnl.27.12.1107 · Cited by 229 · see citing works

Fatty acid omega‐oxidation as a rescue pathway for fatty acid oxidation disorders in humans

Wanders, R. J. A., Komen, J. C., & Kemp, S. (2010) · FEBS Journal · doi:10.1111/j.1742-4658.2010.07947.x · Cited by 221 · see citing works

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

Fourcade, S., Lopez-Erauskin, J., Galino, J., Duval, C., Naudi, A., Jove, M., Kemp, S., Villarroya, F., Ferrer, I., Pamplona, R., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn085 · Cited by 214 · see citing works

Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort

Guran, T., Buonocore, F., Saka, N., Ozbek, M. N., Aycan, Z., Bereket, A., Bas, F., Darcan, S., Bideci, A., Guven, A., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3250 · Cited by 207 · see citing works

Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.

Ho, J. K., Moser, H., Kishimoto, Y., & Hamilton, J. A. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118182 · Cited by 199 · see citing works

X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes

Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J.-F., Wei, H.-M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., & Watkins, P. A. (1999) · Neurochemical Research · doi:10.1023/a:1022535930009 · Cited by 190 · see citing works

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Engelen, M., Kemp, S., & Poll-The, B.-T. (2014) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-014-0486-0 · Cited by 187 · see citing works

Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture

Hein, S., Schonfeld, P., Kahlert, S., & Reiser, G. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn066 · Cited by 180 · see citing works

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

Eichler, F. S., Ren, J., Cossoy, M., Rietsch, A. M., Nagpal, S., Moser, A. B., Frosch, M. P., & Ransohoff, R. M. (2008) · Annals of Neurology · doi:10.1002/ana.21391 · Cited by 178 · see citing works

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

Ofman, R., Dijkstra, I. M. E., van Roermund, C. W. T., Burger, N., Turkenburg, M., van Cruchten, A., van Engen, C. E., Wanders, R. J. A., & Kemp, S. (2010) · EMBO Molecular Medicine · doi:10.1002/emmm.201000061 · Cited by 170 · see citing works

Peroxisomes, lipid metabolism and lipotoxicity

Wanders, R. J. A., Ferdinandusse, S., Brites, P., & Kemp, S. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2010.01.001 · Cited by 169 · see citing works

Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro.

Whitcomb, R. W., Linehan, W. M., & Knazek, R. A. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113292 · Cited by 168 · see citing works

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

Valianpour, F., Selhorst, J. J. M., van Lint, L. E. M., van Gennip, A. H., Wanders, R. J. A., & Kemp, S. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00098-2 · Cited by 150 · see citing works

Adrenoleukodystrophy-Related Protein Can Compensate Functionally for Adrenoleukodystrophy Protein Deficiency (X-ALD): Implications for Therapy

Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G., & Berger, J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.907 · Cited by 148 · see citing works

Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening

Dubey, P., Raymond, G. V., Moser, A. B., Kharkar, S., Bezman, L., & Moser, H. W. (2005) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.10.067 · Cited by 145 · see citing works

Impaired Very Long-chain Acyl-CoA β-Oxidation in Human X-linked Adrenoleukodystrophy Fibroblasts Is a Direct Consequence of ABCD1 Transporter Dysfunction

Wiesinger, C., Kunze, M., Regelsberger, G., Forss-Petter, S., & Berger, J. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.445445 · Cited by 145 · see citing works

Identification of the peroxisomal β-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids

Ferdinandusse, S., Denis, S. W., van Roermund, C. W. T., Wanders, R. J. A., & Dacremont, G. (2004) · Journal of Lipid Research · doi:10.1194/jlr.m300512-jlr200 · Cited by 144 · see citing works

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

Berger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works

Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy

Moser, H. W., Moser, A. B., Naidu, S., & Bergin, A. (1991) · Developmental Neuroscience · doi:10.1159/000112170 · Cited by 139 · see citing works

Antioxidants halt axonal degeneration in a mouse model of X‐adrenoleukodystrophy

López‐Erauskin, J., Fourcade, S., Galino, J., Ruíz, M., Schlüter, A., Naudí, A., Jové, M., Portero‐Otín, M., Pamplona, R., Ferrer, I., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22363 · Cited by 135 · see citing works

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"

van Geel, B. M., Assies, J., Haverkort, E. B., Koelman, J. H. T. M., Verbeeten, B., Wanders, R. J. A., & Barth, P. G. (1999) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.67.3.290 · Cited by 131 · see citing works

A new dietary therapy for adrenoleukodystrophy: Biochemical and preliminary clinical results in 36 patients

Moser, A. B., Borel, J. S., Odone, A., Naidu, S., Cornblath, D., Sanders, D. B., & Moser, H. W. (1987) · Annals of Neurology · doi:10.1002/ana.410210305 · Cited by 130 · see citing works

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

(1995) · Europe PMC (PubMed Central) · Cited by 130 · see citing works

Altered expression of ALDP in X-linked adrenoleukodystrophy.

(1995) · PubMed Central · Cited by 127 · see citing works

X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

Berger, J., Molzer, B., Fae, I., & Bernheimer, H. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.2855 · Cited by 126 · see citing works

Comparison of Reduced-Intensity Hematopoietic Cell Transplantation with Chemotherapy in Patients Age 60-70 Years with Acute Myelogenous Leukemia in First Remission

Farag, S. S., Maharry, K. S., Zhang, M., Pérez, W. S., George, S. L., Mrózek, K., DiPersio, J. F., Bunjes, D. W., Marcucci, G., Baer, M. R., et al. (2011) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2011.06.005 · Cited by 125 · see citing works

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Vogel, B. H., Bradley, S. E., Adams, D. J., D'Aco, K., Erbe, R. W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., et al. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.02.002 · Cited by 123 · see citing works

Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype

Korenke, G. C., Wilichowski, E., Hunneman, D. H., Hanefeld, F., Fuchs, S., Krasemann, E., & Doerr, H. G. (1996) · Annals of Neurology · doi:10.1002/ana.410400221 · Cited by 117 · see citing works

Biochemical aspects of X-linked adrenoleukodystrophy

Kemp, S., & Wanders, R. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00391.x · Cited by 116 · see citing works

Spastic paraplegia associated with Addison’s disease: Adult variant of adreno-leukodystrophy

Budka, H., Sluga, E., & Heiss, W.-D. (1976) · Journal of Neurology · doi:10.1007/bf00312873 · Cited by 115 · see citing works

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance

Kemp, S., Theodoulou, F. L., & Wanders, R. J. (2011) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2011.01435.x · Cited by 115 · see citing works

X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.

(2000) · PubMed Central · Cited by 114 · see citing works

Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy

Boehm, C. D., Cutting, G. R., Lachtermacher, M. B., Moser, H. W., & Chong, S. S. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1998.2779 · Cited by 112 · see citing works

Autoimmune Addison’s Disease

Betterle, C., & Morlin, L. (2010) · Endocrine development · doi:10.1159/000321239 · Cited by 109 · see citing works

Adreno-leukodystrophy (sex-linked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis.

(1974) · PubMed Central · Cited by 102 · see citing works

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids

van Roermund, C. W. T., IJlst, L., Wagemans, T., Wanders, R. J. A., & Waterham, H. R. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2013.12.001 · Cited by 101 · see citing works

Lovastatin for X-Linked Adrenoleukodystrophy

Singh, I., Khan, M., Key, L., & Pai, S. (1998) · New England Journal of Medicine · doi:10.1056/nejm199809033391012 · Cited by 101 · see citing works

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

(1996) · PubMed Central · Cited by 99 · see citing works

Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels

Rizzo, W. B., Phillips, M. W., Dammann, A. L., Leshner, R. T., Jennings, S. S., Avigan, J., & Proud, V. K. (1987) · Annals of Neurology · doi:10.1002/ana.410210304 · Cited by 97 · see citing works

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

Kemp, S., Valianpour, F., Denis, S., Ofman, R., Sanders, R.-J., Mooyer, P., Barth, P. G., & Wanders, R. J. A. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.09.015 · Cited by 97 · see citing works

Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy

de Beer, M., Engelen, M., & van Geel, B. M. (2014) · Neurology · doi:10.1212/wnl.0000000000001074 · Cited by 97 · see citing works

Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy.

Knazek, R. A., Rizzo, W. B., Schulman, J. D., & Dave, J. R. (1983) · Journal of Clinical Investigation · doi:10.1172/jci110963 · Cited by 94 · see citing works

Brain endothelial dysfunction in cerebral adrenoleukodystrophy

Musolino, P. L., Gong, Y., Snyder, J. M. T., Jimenez, S., Lok, J., Lo, E. H., Moser, A. B., Grabowski, E. F., Frosch, M. P., & Eichler, F. S. (2015) · Brain · doi:10.1093/brain/awv250 · Cited by 92 · see citing works

Predominance of the adrenomyeloneuropathy phenotype of X‐linked adrenoleukody strophy in the Netherlands: A survey of 30 kindreds

van Geel, B. M., Assies, J., Weverling, G. J., & Barth, P. G. (1994) · Neurology · doi:10.1212/wnl.44.12.2343 · Cited by 90 · see citing works

Head trauma can initiate the onset of adreno-leukodystrophy

Raymond, G. V., Seidman, R., Monteith, T. S., Kolodny, E., Sathe, S., Mahmood, A., & Powers, J. M. (2010) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2009.11.005 · Cited by 90 · see citing works

A Next Generation Multiscale View of Inborn Errors of Metabolism

Argmann, C., Houten, S. M., Zhu, J., & Schadt, E. E. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.11.012 · Cited by 89 · see citing works

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 · doi:10.1007/s10545-014-9797-1 · Cited by 78 · see citing works

Untitled work

Koelman (1996) · doi:10.1212/wnl.46.1.112 · Cited by 78 · see citing works

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot for mutations

Kemp, S., Ligtenberg, M. J. L., Vangeel, B. M., Barth, P. G., Wolterman, R. A., Schoute, F., Sarde, C. O., Mandel, J. L., Vanoost, B. A., & Bolhuis, P. A. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.1979 · Cited by 75 · see citing works

Nerve conduction studies in adrenomyeloneuropathy

Chaudhry, V, Moser, H. W., & Cornblath, D. R. (1996) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.61.2.181 · Cited by 73 · see citing works

MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy

Fatemi, A. S., Barker, P. B., Uluğ, A. M., Nagae‐Poetscher, L. M., Beauchamp, N. J., Moser, A. B., Raymond, G. V., Moser, H. W., & Naidu, S. (2003) · Neurology · doi:10.1212/01.wnl.0000059546.15529.cb · Cited by 71 · see citing works

A correlative study of the adrenal cortex in adreno-leukodystrophy--evidence for a fatal intoxication with very long chain saturated fatty acids.

(1980) · PubMed · Cited by 71 · see citing works

Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy

Höftberger, R., Kunze, M., Weinhofer, I., Aboul-Enein, F., Voigtländer, T., Oezen, I., Amann, G., Bernheimer, H., Budka, H., & Berger, J. (2007) · Neurobiology of Disease · doi:10.1016/j.nbd.2007.07.007 · Cited by 69 · see citing works

Lovastatin in X-Linked Adrenoleukodystrophy

Engelen, M., Ofman, R., Dijkgraaf, M. G. W., Hijzen, M., van der Wardt, L. A., van Geel, B. M., de Visser, M., Wanders, R. J. A., Poll‐The, B. T., & Kemp, S. (2010) · New England Journal of Medicine · doi:10.1056/nejmc0907735 · Cited by 66 · see citing works

Histochemical characteristics of the striated inclusions of adrenoleukodystrophy

Johnson, A. B., Schaumburg, H. H., & Powers, J. M. (1976) · Journal of Histochemistry & Cytochemistry · doi:10.1177/24.6.59773 · Cited by 66 · see citing works

Zur diffusen Hirn-Rückenmarksklerose im Kindesalter

Haberfeld, W., & Spieler, F. (1910) · Journal of Neurology · doi:10.1007/bf01629013 · Cited by 65 · see citing works

Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy

Fatemi, A., Smith, S. A., Dubey, P., Zackowski, K. M., Bastian, A. J., van Zijl, P. C., Moser, H. W., Raymond, G. V., & Golay, X. (2005) · Neurology · doi:10.1212/01.wnl.0000164458.02141.06 · Cited by 64 · see citing works

Predictions of a 2‐locus model for disease heterogeneity: Application to adrenoleukodystrophy

Maestri, N. E., & Beaty, T. H. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320440509 · Cited by 63 · see citing works

Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated

Jangouk, P., Zackowski, K. M., Naidu, S., & Raymond, G. V. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.11.001 · Cited by 63 · see citing works

Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's Oil)

Rasmussen, M., Moser, A. B., Borel, J. S., Khangoora, S., & Moser, H. W. (1994) · Neurochemical Research · doi:10.1007/bf00968719 · Cited by 62 · see citing works

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D., & Tortorelli, S. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.11.013 · Cited by 60 · see citing works

ω-Oxidation of Very Long-chain Fatty Acids in Human Liver Microsomes

Sanders, R., Ofman, R., Durán, M., Kemp, S., & Wanders, R. J. A. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m513481200 · Cited by 59 · see citing works

Mutational Analysis and Genotype-Phenotype Correlation of 29 Unrelated Japanese Patients With X-linked Adrenoleukodystrophy

Takano, H., Koike, R., Onodera, O., Sasaki, R., & Tsuji, S. (1999) · Archives of Neurology · doi:10.1001/archneur.56.3.295 · Cited by 58 · see citing works

Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Heikoop, J., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den Bosch, H., Poll-Thé, B. T., Saudubray, J. M., et al. (1987) · Clinica Chimica Acta · doi:10.1016/0009-8981(87)90428-1 · Cited by 58 · see citing works

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., et al. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.05.016 · Cited by 58 · see citing works

Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins

Sobue, G., Ueno‐Natsukari, I., Okamoto, H., Connell, T. A., Aizawa, I., Mizoguchi, K., Honma, M., Ishikawa, G., Mitsuma, T., & Natsukari, N. (1994) · Annals of Neurology · doi:10.1002/ana.410360617 · Cited by 56 · see citing works

Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions

Kruska, N., Schönfeld, P., Pujol, A., & Reiser, G. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2015.01.005 · Cited by 56 · see citing works

Adrenoleukodystrophy: Clinical and biochemical manifestations in carriers

O'Neill, B. P., Moser, H. W., Saxena, K. M., & Marmion, L. C. (1984) · Neurology · doi:10.1212/wnl.34.6.798 · Cited by 56 · see citing works

Assessment of Adrenal Function in Women Heterozygous for Adrenoleukodystrophy1

El-Deiry, S. S., Naidu, S., Blevins, L. S., & Ladenson, P. W. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.3.3802 · Cited by 53 · see citing works

Evaluation of pharmacological induction of fatty acid β-oxidation in X-linked Adrenoleukodystrophy

McGuinness, M. C., Zhang, H.-P., & Smith, K. D. (2001) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2001.3239 · Cited by 51 · see citing works

Characterization of the human ω‐oxidation pathway for ω‐hydroxy‐very‐long‐chain fatty acids

Sanders, R., Ofman, R., Dacremont, G., Wanders, R. J. A., & Kemp, S. (2008) · The FASEB Journal · doi:10.1096/fj.07-099150 · Cited by 51 · see citing works

Topology of ATP-Binding Domain of Adrenoleukodystrophy Gene Product in Peroxisomes

Contreras, M., Sengupta, T. K., Sheikh, F. G., Aubourg, P. R., & Singh, I. (1996) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1996.0467 · Cited by 51 · see citing works

Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms

Garside, S., Rosebush, P. I., Levinson, A. J., & Mazurek, M. F. (1999) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.v60n0708 · Cited by 51 · see citing works

Testicular dysfunction in adrenomyeloneuropathy

Brennemann, W., Köhler, W., Zierz, S., & Klingmüller, D. (1997) · European Journal of Endocrinology · doi:10.1530/eje.0.1370034 · Cited by 50 · see citing works

Bezafibrate lowers very long‐chain fatty acids in X‐linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

Engelen, M., Schackmann, M. J. A., Ofman, R., Sanders, R., Dijkstra, I. M. E., Houten, S. M., Fourcade, S., Pujol, A., Poll‐The, B. T., Wanders, R. J. A., et al. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9471-4 · Cited by 49 · see citing works

Fetal adrenoleukodystrophy: the significance of pathologic lesions in adrenal gland and testis

Powers, J. M., Moser, H. W., Moser, A. B., & Schaumburg, H. H. (1982) · Human Pathology · doi:10.1016/s0046-8177(82)80093-2 · Cited by 49 · see citing works

Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X‐linked adrenoleukodystrophy: a retrospective study

Assies, J., Gooren, L. J., van Geel, B. M., & Barth, P. G. (1997) · International Journal of Andrology · doi:10.1046/j.1365-2605.1997.00066.x · Cited by 46 · see citing works

FAMILIAL ADDISON'S DISEASE WITH SPASTIC PARAPLEGIA

Harris‐Jones, J. N., & Nixon, P. G. F. (1955) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-15-6-739 · Cited by 45 · see citing works

Spectroscopic evidence of cerebral axonopathy in patients with “pure” adrenomyeloneuropathy

Dubey, P., Fatemi, A. S., Barker, P. B., Degaonkar, M. N., Tröger, M., Zackowski, K. M., Bastian, A. J., Smith, S. A., Pomper, M. G., Moser, H. W., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000149514.13580.84 · Cited by 45 · see citing works

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Berendse, K., Engelen, M., Linthorst, G. E., van Trotsenburg, A. S. P., & Poll‐The, B. T. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-014-0133-5 · Cited by 45 · see citing works

Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes

Di Rocco, M., Doria‐Lamba, L., & Caruso, U. (2001) · Annals of Neurology · doi:10.1002/ana.1220 · Cited by 45 · see citing works

Myelopathy but normal MRI: where next?

Wong, S. H., Boggild, M., Enevoldson, T. P., & Fletcher, N. A. (2008) · Practical Neurology · doi:10.1136/jnnp.2008.144121 · Cited by 45 · see citing works

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: An analysis using cross-kingdom expression

Zhang, X., De Marcos Lousa, C., Schutte-Lensink, N., Ofman, R., Wanders, R. J., Baldwin, S. A., Baker, A., Kemp, S., & Theodoulou, F. L. (2011) · Biochemical Journal · doi:10.1042/bj20110249 · Cited by 43 · see citing works

Adrenoleukodystrophy: Frequency of presentation as a psychiatric disorder

Kitchin, W., Cohen-Cole, S. A., & Mickel, S. F. (1987) · Biological Psychiatry · doi:10.1016/0006-3223(87)90072-2 · Cited by 43 · see citing works

Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis

Schackmann, M. J. A., Ofman, R., Dijkstra, I. M. E., Wanders, R. J. A., & Kemp, S. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2014.12.005 · Cited by 41 · see citing works

Evidence for two enzymatic pathways for ω-oxidation of docosanoic acid in rat liver microsomes

Sanders, R., Ofman, R., Valianpour, F., Kemp, S., & Wanders, R. J. A. (2005) · Journal of Lipid Research · doi:10.1194/jlr.m400510-jlr200 · Cited by 41 · see citing works

Adrenoleukodystrophy in Norway: High Rate of De Novo Mutations and Age-Dependent Penetrance

Horn, M. A., Retterstøl, L., Abdelnoor, M., Skjeldal, O. H., & Tallaksen, C. M. E. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2012.12.007 · Cited by 41 · see citing works

Method for measurement of peroxisomal very-long-chain fatty acid β-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid

Kemp, S., Valianpour, F., Mooyer, P. A. W., Kulik, W., & Wanders, R. J. A. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2004.038539 · Cited by 40 · see citing works

Arrested cerebral adrenoleukodystrophy: A clinical and proton magnetic resonance spectroscopy study in three patients

Korenke, G. C., Pouwels, P. J. W., Frahm, J., Hunneman, D. H., Stoeckler, S., Krasemann, E., Jost, W., & Hanefeld, F. (1996) · Pediatric Neurology · doi:10.1016/0887-8994(95)00156-5 · Cited by 39 · see citing works

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

Kemp, S., Mooyer, P. A. W., Bolhuis, P. A., van Geel, B. M., Mandel, J. L., Barth, P. G., Aubourg, P., & Wanders, R. J. A. (1996) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799844 · Cited by 37 · see citing works

Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus

Heffungs, W., Hameister, H., & Ropers, H. (1980) · Clinical Genetics · doi:10.1111/j.1399-0004.1980.tb00868.x · Cited by 36 · see citing works

Addison's Disease in Association with Spastic Paraplegia

Penman, R. (1960) · BMJ · doi:10.1136/bmj.1.5170.402 · Cited by 34 · see citing works

Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy

Schmidt, S., Träber, F., Block, W., Keller, E., Pohl, C., von Oertzen, T. J., Schild, H. H., Schlegel, U. S., & Klockgether, T. (2001) · Journal of Neurology · doi:10.1007/s004150170267 · Cited by 34 · see citing works

Very‐late‐onset adrenoleukodystrophy: Possible precipitation of demyelination by cerebral contusion

Weller, M., Liedtke, W., Petersen, D., Opitz, H., & Poremba, M. (1992) · Neurology · doi:10.1212/wnl.42.2.367 · Cited by 33 · see citing works

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Salsano, E., Tabano, S., Sirchia, S. M., Colapietro, P., Castellotti, B., Gellera, C., Rimoldi, M., Pensato, V., Mariotti, C., Pareyson, D., et al. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-10 · Cited by 32 · see citing works

Bezafibrate for X-Linked Adrenoleukodystrophy

Engelen, M., Tran, L., Ofman, R., Brennecke, J., Moser, A. B., Dijkstra, I. M. E., Wanders, R. J. A., Poll‐The, B. T., & Kemp, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0041013 · Cited by 31 · see citing works

Phenotypes of female adrenoleukodystrophy

Jung, H. H., Wimplinger, I., Jung, S. E., Landau, K., Gal, A., & Heppner, F. L. (2007) · Neurology · doi:10.1212/01.wnl.0000257129.51273.73 · Cited by 30 · see citing works

Lorenzo's Oil -- Hope and Disappointment

Rizzo, W. B. (1993) · New England Journal of Medicine · doi:10.1056/nejm199309093291110 · Cited by 30 · see citing works

Genetic variants of methionine metabolism and X-ALD phenotype generation: Results of a new study sample

Semmler, A., Bao, X., Cao, G., Köhler, W., Weller, M., Aubourg, P., & Linnebank, M. (2009) · Journal of Neurology · doi:10.1007/s00415-009-5114-6 · Cited by 30 · see citing works

Pathologic findings in adrenoleukodystrophy heterozygotes.

Powers, J. M., Moser, H. W., Ab, M., Ck, M., Elias, S. B., & Norum, R. A. (1987) · PubMed · Cited by 26 · see citing works

Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger

Govaerts, L. C. P., Monnens, L. A. H., Melis, T., & Trijbels, F. J. M. (1984) · European Journal of Pediatrics · doi:10.1007/bf00442740 · Cited by 26 · see citing works

Elevated plasma adrenocorticotropin concentration as evidence of limited adrenocortical reserve in patients with adrenomyeloneuropathy

Blevins, L. S., Shankroff, J., Moser, H. W., & Ladenson, P. W. (1994) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.78.2.261 · Cited by 25 · see citing works

Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

Stradomska, T. J., Kubalska, J., Janas, R. M., & Tylki‐Szymańska, A. (2011) · European Journal of Endocrinology · doi:10.1530/eje-11-0490 · Cited by 25 · see citing works

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy

Linnebank, M., Kemp, S., Wanders, R. J. A., Kleijer, W. J., van der Sterre, M. L. T., Gärtner, J., Fliessbach, K., Semmler, A., Sokolowski, P., Köhler, W., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000196491.42058.6f · Cited by 22 · see citing works

Screening for <scp>X</scp>‐linked adrenoleukodystrophy among adult men with Addison's disease

Horn, M. A., Erichsen, M. M., Wolff, A. S. B., Månsson, J., Husebye, E. S., Tallaksen, C. M. E., & Skjeldal, O. H. (2013) · Clinical Endocrinology · doi:10.1111/cen.12159 · Cited by 22 · see citing works

Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy

Horn, M. A., Nilsen, K. B., Jørum, E., Mellgren, S. I., & Tallaksen, C. M. E. (2014) · Neurology · doi:10.1212/wnl.0000000000000415 · Cited by 21 · see citing works

Cognitive impairment in adult-onset adrenoleukodystrophy

Edwin, D., Speedie, L., Naidu, S., & Moser, H. (1990) · Molecular and Chemical Neuropathology · doi:10.1007/bf03159942 · Cited by 20 · see citing works

Dramatic worsening of adult-onset X-linked adrenoleukodystrophy after head trauma

Bouquet, F., Dehais, C., Sanson, M., Lubetzki, C., & Louapre, C. (2015) · Neurology · doi:10.1212/wnl.0000000000002173 · Cited by 19 · see citing works

MR in adrenoleukodystrophy: atypical presentation as bilateral frontal demyelination.

Castellote, A., Vera, J., Méndez, E. V., Roig-Quilis, M., Belmonte, J. A., & Rovira, À. (1995) · PubMed Central · Cited by 18 · see citing works

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Amorosi, C. A., Myšková, H., Monti, M. R., Argaraña, C. E., Morita, M., Kemp, S., de Kremer, R. D., Dvořáková, L., & Ramírez, A. M. O. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052635 · Cited by 15 · see citing works

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics

Schackmann, M. J. A., Ofman, R., van Geel, B. M., Dijkstra, I. M. E., van Engelen, K., Wanders, R. J. A., Engelen, M., & Kemp, S. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2016.03.009 · Cited by 15 · see citing works

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy

Linnebank, M., Semmler, A., Kleijer, W. J., van der Sterre, M. L. T., Gärtner, J., Fließbach, K., Sokolowski, P., Köhler, W., Schlegel, U. S., Klockgether, T., et al. (2006) · Human Mutation · doi:10.1002/humu.9459 · Cited by 14 · see citing works

X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Karapanou, O., Vlassopoulou, B., Tzanela, M., Papadopoulos, D., Angelidakis, P., Michelakakis, H., Ioannidis, G., Mihalatos, M., Kamakari, S., & Tsagarakis, S. (2014) · HORMONES · doi:10.1007/bf03401330 · Cited by 13 · see citing works

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 · doi:10.1111/j.1529-8027.2011.00367.x · Cited by 12 · see citing works

Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier

Chen, X., Chen, Z., Huang, D., Liu, X., Gui, Q., & Yu, S. (2014) · Gene · doi:10.1016/j.gene.2014.04.056 · Cited by 11 · see citing works

The Neuropsychiatry of Adrenomyeloneuropathy

Walterfang, M., O'Donovan, J., Fahey, M. C., & Velakoulis, D. (2007) · CNS Spectrums · doi:10.1017/s1092852900021532 · Cited by 9 · see citing works

Adrenoleucodystrophy: Dermatological Findings and Skin Surface Lipid Study

Papini, M., Calandra, P., Calvieri, S., Laureti, S., & Casucci, G. (2009) · Dermatology · doi:10.1159/000247080 · Cited by 9 · see citing works

Role for peroxisome proliferator-activated receptor-gamma in Alzheimer's disease.

van Geel (2001) · Open Repository and Bibliography (University of Luxembourg) · doi:10.1002/1531-8249(20010201)49:2 · Cited by 7 · see citing works

Hematopoietic Stem Cell Transplantation For Adult Cerebral X-linked Adrenoleukodystrophy (P5.174)

Köhler, W., & Kühl, J. (2014) · Neurology · doi:10.1212/wnl.82.10_supplement.p5.174 · Cited by 6 · see citing works

Effect of Dehydroepiandrosterone (DHEA) Supplementation on Fatty Acid and Hormone Levels in Patients with X-linked Adrenoleukodystrophy

Assies, J., Haverkort, E. B., Lieverse, R., & Vreken, P. (2003) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-9072-3_30 · Cited by 3 · see citing works

Increased activity of surviving locus ceruleus neurons in Alzheimer's disease

Moser (1999) · Pure Amsterdam UMC · doi:10.1002/1531-8249(199901)45:1

Inflammasome signalling in brain function and neurodegenerative disease

Heneka, M. T., McManus, R. M., & Latz, E. (2018) · Nature Reviews Neuroscience · doi:10.1038/s41583-018-0055-7 · Cited by 836 · see citing works

The physiological functions of human peroxisomes

Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S., & Waterham, H. R. (2023) · Physiological Reviews · doi:10.1152/physrev.00051.2021 · Cited by 228 · see citing works

Adrenal insufficiency

Hahner, S., Ross, R. J., Arlt, W., Bancos, I., Burger-Stritt, S., Torpy, D. J., Husebye, E. S., & Quinkler, M. (2021) · Nature Reviews Disease Primers · doi:10.1038/s41572-021-00252-7 · Cited by 223 · see citing works

X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

Turk, B. R., Theda, C., Fatemi, A. S., & Moser, A. B. (2020) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10003 · Cited by 206 · see citing works

25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome

Jang, J., Park, S., Hur, H., Cho, H., Hwang, I., Kang, Y. P., Im, I., Lee, H., Lee, E., Yang, W., et al. (2016) · Nature Communications · doi:10.1038/ncomms13129 · Cited by 171 · see citing works

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 · doi:10.1212/wnl.0000000000201374 · Cited by 156 · see citing works

Adulthood leukodystrophies

Köhler, W., Curiel, J., & Vanderver, A. L. (2018) · Nature Reviews Neurology · doi:10.1038/nrneurol.2017.175 · Cited by 158 · see citing works

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 &amp; Metabolism · doi:10.1210/jc.2018-01307 · Cited by 147 · see citing works

The splenium of the corpus callosum: embryology, anatomy, function and imaging with pathophysiological hypothesis

Blaauw, J., & Meiners, L. C. (2020) · Neuroradiology · doi:10.1007/s00234-019-02357-z · Cited by 120 · see citing works

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 · doi:10.1186/s13023-019-1008-6 · Cited by 100 · see citing works

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Lee, K., Abul‐Husn, N. S., Amendola, L. M., Brothers, K. B., Chung, W. K., Gollob, M. H., Gordon, A. S., Harrison, S. M., Hershberger, R. E., Li, M. M., et al. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101454 · Cited by 89 · see citing works

Thyroid Hormone Analogues: An Update

Zucchi, R. (2020) · Thyroid · doi:10.1089/thy.2020.0071 · Cited by 88 · see citing works

The role of the clinician in the multi‐omics era: are you ready?

van Karnebeek, C., Wortmann, S. B., Tarailo‐Graovac, M., Langeveld, M., Ferreira, C. R., van de Kamp, J. M., Hollak, C. E. M., Wasserman, W. W., Waterham, H. R., Wevers, R. A., et al. (2018) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0128-1 · Cited by 79 · see citing works

The changing face of adrenoleukodystrophy

Zhu, J., Eichler, F., Biffi, A., Duncan, C. N., Williams, D. A., & Majzoub, J. A. (2020) · Endocrine Reviews · doi:10.1210/endrev/bnaa013 · Cited by 78 · see citing works

Primary adrenal insufficiency in children: Diagnosis and management

Kırkgöz, T., & Güran, T. (2018) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2018.05.010 · Cited by 80 · see citing works

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., Kenney‐Jung, D., Lund, T., Miller, W., Pierpont, E. I., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61171 · Cited by 75 · see citing works

Pre-clinical and Clinical Implications of “Inside-Out” vs. “Outside-In” Paradigms in Multiple Sclerosis Etiopathogenesis

Titus, H. E., Chen, Y., Podojil, J. R., Robinson, A. P., Balabanov, R. D., Popko, B., & Miller, S. D. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.599717 · Cited by 73 · see citing works

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 · doi:10.1016/j.ymgme.2017.10.012 · Cited by 71 · see citing works

How the brain fights fatty acids’ toxicity

Schönfeld, P., & Reiser, G. (2021) · Neurochemistry International · doi:10.1016/j.neuint.2021.105050 · Cited by 70 · see citing works

A Thyroid Hormone–Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy

Hartley, M. D., Kirkemo, L. L., Banerji, T., & Scanlan, T. S. (2017) · Endocrinology · doi:10.1210/en.2016-1842 · Cited by 71 · see citing works

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 · doi:10.3389/fcell.2020.00690 · Cited by 69 · see citing works

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C., & Orchard, P. J. (2022) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2022.2124857 · Cited by 67 · see citing works

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

Lee, S., Clinard, K., Young, S. P., Rehder, C. W., Fan, Z., Calikoglu, A. S., Bali, D. S., Bailey, D. B., Gehtland, L. M., Millington, D. S., et al. (2020) · JAMA Network Open · doi:10.1001/jamanetworkopen.2019.20356 · Cited by 67 · see citing works

Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders

Wanders, R. J. A., Vaz, F. M., Waterham, H. R., & Ferdinandusse, S. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-60204-8_5 · Cited by 67 · see citing works

Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness

Huffnagel, I. C., van Ballegoij, W. J. C., van Geel, B. M., Vos, J. M. B. W., Kemp, S., & Engelen, M. (2018) · Brain · doi:10.1093/brain/awy299 · Cited by 66 · see citing works

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 · doi:10.3389/fcell.2020.00499 · Cited by 65 · see citing works

Targeting Fatty-Acid Amide Hydrolase with Prodrugs for CNS-Selective Therapy

Meinig, J. M., Ferrara, S. J., Banerji, T., Banerji, T., Sanford-Crane, H. S., BOURDETTE, D. N., & Scanlan, T. S. (2017) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.7b00239 · Cited by 64 · see citing works

Adrenoleukodystrophy: Guidance for adrenal surveillance in males identified by newborn screen

Regelmann, M. O., Kamboj, M. K., Miller, B. S., Nakamoto, J. M., Sarafoglou, K., Shah, S., Stanley, T. L., Marino, R., & Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee (2018) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2018-00920 · Cited by 61 · see citing works

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 · doi:10.3390/cells11020283 · Cited by 60 · see citing works

Primary Adrenal Insufficiency: Managing Mineralocorticoid Replacement Therapy

Espósito, D., Pasquali, D., & Johannsson, G. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-01928 · Cited by 61 · see citing works

The Adrenal Cortex and its Disorders

Miller, W. L. (2009) · Wiley eBooks · doi:10.1002/9781444316728.ch13 · Cited by 51 · see citing works

ABCD1 dysfunction alters white matter microvascular perfusion

Lauer, A., Da, X., Hansen, M. B., Boulouis, G., Ou, Y., Cai, X., Liberato Celso Pedrotti, A., Kalpathy-Cramer, J., Caruso, P., Hayden, D. L., et al. (2017) · Brain · doi:10.1093/brain/awx262 · Cited by 48 · see citing works

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network

Page, K. M., Stenger, E. O., Connelly, J. A., Shyr, D. C., West, T., Wood, S. J., Case, L. E., Kester, M., Shim, S., Hammond, L., et al. (2019) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2019.09.003 · Cited by 49 · see citing works

Primary adrenal insufficiency in childhood: data from a large nationwide cohort

Capalbo, D., Moracas, C., Cappa, M., Balsamo, A., Maghnie, M., Wasniewska, M. G., Greggio, N. A., Baronio, F., Bizzarri, C., Ferro, G., et al. (2021) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/clinem/dgaa881 · Cited by 47 · see citing works

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy

van de Beek, M.-C., Ofman, R., Dijkstra, I. M. E., Wijburg, F. A., Engelen, M., Wanders, R. J. A., & Kemp, S. (2017) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2017.06.003 · Cited by 46 · see citing works

Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy

Gong, Y., Berenson, A., Laheji, F., Gao, G., Wang, D., Ng, C., Volak, A., Kok, R., Kreouzis, V., Dijkstra, I. M., et al. (2019) · Human Gene Therapy · doi:10.1089/hum.2018.079 · Cited by 45 · see citing works

Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy

Jaspers, Y. R. J., Yska, H. A. F., Bergner, C. G., Dijkstra, I. M. E., Huffnagel, I. C., Voermans, M. M. C., Wever, E. J. M., Salomons, G. S., Vaz, F. M., Jongejan, A., et al. (2024) · Communications Medicine · doi:10.1038/s43856-024-00605-9 · Cited by 45 · see citing works

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy

Raas, Q., van de Beek, M.-C., Forss‐Petter, S., Dijkstra, I. M. E., Deschiffart, A., Freshner, B. C., Stevenson, T. J., Jaspers, Y. R. J., Nagtzaam, L., Wanders, R. J. A., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci142500 · Cited by 41 · see citing works

Glial Cells and Brain Diseases: Inflammasomes as Relevant Pathological Entities

Martínez, E. M., Díaz‐Muñoz, M., & Vázquez‐Cuevas, F. G. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.929529 · Cited by 42 · see citing works

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

Rodríguez-Pascau, L., Vilalta, A., Cerrada, M., Traver, E., Forss-Petter, S., Weinhofer, I., Bauer, J., Kemp, S., Pina, G., Pascual, S., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abc0555 · Cited by 40 · see citing works

Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy

van Ballegoij, W. J. C., van de Stadt, S. I. W., Huffnagel, I. C., Kemp, S., Willemse, E. A. J., Teunissen, C. E., & Engelen, M. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51188 · Cited by 35 · see citing works

The natural history of 21-hydroxylase autoantibodies in autoimmune Addison’s disease

Wolff, A. S. B., Breivik, L., Hufthammer, K. O., Grytaas, M. A., Bratland, E., Husebye, E. S., & Oftedal, B. E. (2021) · European Journal of Endocrinology · doi:10.1530/eje-20-1268 · Cited by 35 · see citing works

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M. M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., et al. (2022) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12571 · Cited by 35 · see citing works

Dendrimer–N‐acetyl‐L‐cysteine modulates monophagocytic response in adrenoleukodystrophy

Turk, B. R., Nemeth, C. L., Marx, J. S., Tiffany, C. W., Jones, R. O., Theisen, B. E., Kambhampati, S. P., Ramireddy, R. R., Singh, S., Rosen, M. H., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25303 · Cited by 34 · see citing works

Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy

Terluk, M. R., Tieu, J., Sahasrabudhe, S. A., Moser, A. B., Watkins, P. A., Raymond, G. V., & Kartha, R. V. (2022) · Neurotherapeutics · doi:10.1007/s13311-022-01226-7 · Cited by 32 · see citing works

Targeting foam cell formation in inflammatory brain diseases by the histone modifier MS‐275

Zierfuss, B., Weinhofer, I., Buda, A., Popitsch, N. P., Hess, L., Moos, V., Hametner, S., Kemp, S., Köhler, W., Forss‐Petter, S., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51200 · Cited by 30 · see citing works

Clinical and Laboratory Diagnosis of Peroxisomal Disorders

Wanders, R. J. A., Klouwer, F. C. C., Ferdinandusse, S., Waterham, H. R., & Poll‐The, B. T. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-6937-1_30 · Cited by 30 · see citing works

Abnormal linear growth in paediatric adrenal diseases: Pathogenesis, prevalence and management

Minnetti, M., Caiulo, S., Ferrigno, R., Ferroli, B. B., Bottaro, G., Gianfrilli, D., Sbardella, E., Martino, M. C. D., & Savage, M. O. (2019) · Clinical Endocrinology · doi:10.1111/cen.14131 · Cited by 33 · see citing works

Parents’ views on accepting, declining, and expanding newborn bloodspot screening

van der Pal, S. M., Wins, S., Klapwijk, J. E., van Dijk, T., Kater‐Kuipers, A., van der Ploeg, C. P. B., Jans, S. M. P. J., Kemp, S., Verschoof‐Puite, R. K., van den Bosch, L. J. M., et al. (2022) · PLoS ONE · doi:10.1371/journal.pone.0272585 · Cited by 29 · see citing works

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 · doi:10.3389/fcell.2020.00520 · Cited by 29 · see citing works

Imaging in X-Linked Adrenoleukodystrophy

van de Stadt, S. I. W., Huffnagel, I. C., Turk, B. R., van der Knaap, M. S., & Engelen, M. (2021) · Neuropediatrics · doi:10.1055/s-0041-1730937 · Cited by 28 · see citing works

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies

Ma, C. Y., Li, C., Zhou, X., Zhang, Z., Jiang, H., Liu, H., Chen, H. J., Tse, H., Liao, C., & Lian, Q. (2021) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2021.112214 · Cited by 28 · see citing works

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need

Honey, M. I. J., Jaspers, Y. R. J., Engelen, M., Kemp, S., & Huffnagel, I. C. (2021) · Cells · doi:10.3390/cells10123427 · Cited by 27 · see citing works

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids

van Engen, C. E., Ofman, R., Dijkstra, I. M. E., van Goethem, T. J., Verheij, E., Varin, J., Vidaud, M., Wanders, R. J. A., Aubourg, P., Kemp, S., et al. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2016.07.006 · Cited by 26 · see citing works

In vivo gene editing via homology-independent targeted integration for adrenoleukodystrophy treatment

Hong, S.-A., Seo, J. H., Wi, S., Jung, E. S., Yu, J., Hwang, G., Yu, J. H., Baek, A., Park, S., Bae, S., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.05.022 · Cited by 26 · see citing works

VUS: Variant of uncertain significance or very unclear situation?

Kemp, S., Orsini, J. J., Ebberink, M. S., Engelen, M., & Lund, T. C. (2023) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2023.107678 · Cited by 25 · see citing works

Newborn screening for adrenoleukodystrophy: International experiences and challenges

Videbæk, C. S., Melgaard, L., Lund, A. M., & Grønborg, S. W. (2023) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2023.107734 · Cited by 25 · see citing works

Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy

Zierfuss, B., Weinhofer, I., Kühl, J., Köhler, W., Bley, A. E., Zauner, K., Binder, J., Martinović, K., Seiser, C., Hertzberg, C., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51015 · Cited by 23 · see citing works

Profiling and Imaging of Phospholipids in Brains of Abcd1‐Deficient Mice

Hama, K., Fujiwara, Y., Morita, M., Yamazaki, F., Nakashima, Y., Takei, S., Takashima, S., Setou, M., Shimozawa, N., Imanaka, T., et al. (2018) · Lipids · doi:10.1002/lipd.12022 · Cited by 22 · see citing works

Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy

Moser, A. B., & Fatemi, A. (2018) · JAMA Neurology · doi:10.1001/jamaneurol.2018.1585 · Cited by 22 · see citing works

Impaired peroxisomal beta-oxidation in microglia triggers oxidative stress and impacts neurons and oligodendrocytes

Tawbeh, A., Gondcaille, C., Saih, F.-E., Raas, Q., Loichot, D., Hamon, Y., Keime, C., Benani, A., Di Cara, F., Cherkaoui-Malki, M., et al. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1542938 · Cited by 21 · see citing works

Longitudinal diffusion MRI as surrogate outcome measure for myelopathy in adrenoleukodystrophy

Huffnagel, I. C., van Ballegoij, W. J. C., Vos, J. M. B. W., Kemp, S., Caan, M. W. A., & Engelen, M. (2019) · Neurology · doi:10.1212/wnl.0000000000008572 · Cited by 21 · see citing works

Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy

van de Stadt, S. I. W., van Ballegoij, W. J. C., Labounek, R., Huffnagel, I. C., Kemp, S., Nestrašil, I., & Engelen, M. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12226 · Cited by 21 · see citing works

Evaluation of the Child With Developmental Impairments

van Karnebeek, C. (2018) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000000564 · Cited by 21 · see citing works

Discovery of Novel, Orally Bioavailable Pyrimidine Ether-Based Inhibitors of ELOVL1

Boyd, M. J., Collier, P. N., Clark, M. P., Deng, H., Kesavan, S., Ronkin, S. M., Waal, N. D., Wang, J., Cao, J., Li, P., et al. (2021) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.1c00948 · Cited by 19 · see citing works

The Role of Oxidative Stress and Inflammation in X-Link Adrenoleukodystrophy

Yu, J., Chen, T., Guo, X., Zafar, M. I., Li, H., Wang, Z., & Zheng, J. (2022) · Frontiers in Nutrition · doi:10.3389/fnut.2022.864358 · Cited by 19 · see citing works

Stearoyl-CoA desaturase-1: a potential therapeutic target for neurological disorders

Loix, M., Vanherle, S., Turri, M., Kemp, S., Fernandes, K. J. L., Hendriks, J. J. A., & Bogie, J. F. J. (2024) · Molecular Neurodegeneration · doi:10.1186/s13024-024-00778-w · Cited by 22 · see citing works

Endocrine dysfunction in adrenoleukodystrophy

Engelen, M., Kemp, S., & Eichler, F. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-819973-2.00018-6 · Cited by 19 · see citing works

Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation

Tawbeh, A., Raas, Q., Tahri-Joutey, M., Keime, C., Kaiser, R., Trompier, D., Nasser, B., Bellanger, E., Dessard, M., Hamon, Y., et al. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1299314 · Cited by 18 · see citing works

Molecular Biomarkers in Multiple Sclerosis and Its Related Disorders: A Critical Review

Gul, M., Jafari, A. A., Shah, M., Mirmoeeni, S., Haider, S. U., Moinuddin, S., & Chaudhry, A. A. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176020 · Cited by 18 · see citing works

Discovery and Optimization of Pyrazole Amides as Inhibitors of ELOVL1

Come, J. H., Senter, T. J., Clark, M. P., Court, J. J., Gale-Day, Z. J., Gu, W., Krueger, E. B., Liang, J., Morris, M., Nanthakumar, S. S., et al. (2021) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.1c00944 · Cited by 16 · see citing works

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

Volmrich, A. M., Cuénant, L. M., Forghani, I., Hsieh, S. L., & Shapiro, L. T. (2022) · The Application of Clinical Genetics · doi:10.2147/tacg.s359479 · Cited by 17 · see citing works

Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy

Schäfer, L., Roicke, H., Bergner, C., & Köhler, W. (2023) · Brain and Behavior · doi:10.1002/brb3.2878 · Cited by 14 · see citing works

7-Ketocholesterol- and 7β-Hydroxycholesterol-Induced Peroxisomal Disorders in Glial, Microglial and Neuronal Cells: Potential Role in Neurodegeneration

Nury, T., Yammine, A., Ménétrier, F., Zarrouk, A., Véjux, A., & Lizard, G. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-60204-8_3 · Cited by 17 · see citing works

Personalized medicine for rare neurogenetic disorders: can we make it happen?Preprint

van Eeghen, A. M., Bruining, H., Wolf, N. I., Bergen, A. A. B., Houtkooper, R. H., van Haelst, M. M., & van Karnebeek, C. (2022) · PubMed Central · doi:10.1101/mcs.a006200 · Cited by 17 · see citing works

Peroxisomal defects in microglial cells induce a disease-associated microglial signature

Raas, Q., Tawbeh, A., Tahri-Joutey, M., Gondcaille, C., Keime, C., Kaiser, R., Trompier, D., Nasser, B., Leoni, V., Bellanger, E., et al. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1170313 · Cited by 16 · see citing works

Dosage Compensation in Females with X-Linked Metabolic Disorders

Juchniewicz, P., Piotrowska, E., Kłoska, A., Podlacha, M., Mantej, J., Węgrzyn, G., Tukaj, S., & Jakóbkiewicz‐Banecka, J. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22094514 · Cited by 16 · see citing works

An update on the diagnosis and treatment of adrenoleukodystrophy

Gujral, J., & Sethuram, S. (2022) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000782 · Cited by 17 · see citing works

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Morales‐Romero, B., de Aledo‐Castillo, J. M. G., Sierra, C. F., Carreira, C. M., Bonet, C. Z., Fernández, R. M. S., Caro-Miró, M. A., Ramírez, A. A., López, R. M., & García‐Villoria, J. (2024) · Journal of Lipid Research · doi:10.1016/j.jlr.2024.100516 · Cited by 16 · see citing works

Evaluation of a panel of very long-chain lysophosphatidylcholines and acylcarnitines for screening of X-linked adrenoleukodystrophy in China

Tian, G.-L., Xu, F., Jiang, K., Wang, Y., Ji, W., & Zhuang, Y. (2020) · Clinica Chimica Acta · doi:10.1016/j.cca.2020.01.016 · Cited by 16 · see citing works

X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies

Turk, B. R., Theda, C., Fatemi, A. S., & Moser, A. B. (2019) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2019.11.002 · Cited by 17 · see citing works

Evolution of adrenoleukodystrophy model systems

Ferrer, R. M., Heine, V. M., Kemp, S., & Engelen, M. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12357 · Cited by 15 · see citing works

Peroxisomes attenuate cytotoxicity of very long-chain fatty acids

Ali, H., Kobayashi, M., Morito, K., Hasi, R. Y., Aihara, M., Hayashi, J., Kawakami, R., Tsuchiya, K., Sango, K., & Tanaka, T. (2022) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2022.159259 · Cited by 15 · see citing works

Implication of Oxysterols and Phytosterols in Aging and Human Diseases

Vigne, S., & Pot, C. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-43883-7_12 · Cited by 15 · see citing works

The Adrenal Cortex and Its Disorders

Hughes, C. R., Man, E., & Achermann, J. C. (2019) · Wiley eBooks · doi:10.1002/9781119152712.ch9 · Cited by 15 · see citing works

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 · doi:10.3390/genes12121930 · Cited by 14 · see citing works

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy

Launay, N., Lopez-Erauskin, J., Bianchi, P., Guha, S., Parameswaran, J., Coppa, A., Torreni, L., Schlüter, A., Fourcade, S., Paredes-Fuentes, A. J., et al. (2024) · Brain · doi:10.1093/brain/awae038 · Cited by 14 · see citing works

Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts

Petrillo, S., D’Amico, J., Nicita, F., Torda, C., Vasco, G., Bertini, E., Cappa, M., & Piemonte, F. (2022) · Antioxidants · doi:10.3390/antiox11112125 · Cited by 13 · see citing works

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

Solares, I., Heredia, C., Castelbón, F. J., Jericó, D., Córdoba, K. M., Fontanellas, A., de Salamanca, R. E., & Morales‐Conejo, M. (2021) · Diagnostics · doi:10.3390/diagnostics11112148 · Cited by 13 · see citing works

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature

Dong, B., Lv, W., Xu, L., Zhao, Y., Sun, X., Wang, Z., Cheng, B., Fu, Z., & Wang, Y. (2022) · International Journal of Endocrinology · doi:10.1155/2022/5479781 · Cited by 12 · see citing works

Group 3: Strategies for identifying the cause of adrenal insufficiency: diagnostic algorithms

Proust-Lemoine, E., Reynaud, R., Delemer, B., Tabarin, A., & Samara‐Boustani, D. (2017) · Annales d Endocrinologie · doi:10.1016/j.ando.2017.10.006 · Cited by 12 · see citing works

Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy

Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works

Identifying transdiagnostic biological subtypes across schizophrenia, bipolar disorder, and major depressive disorder based on lipidomics profiles

Tao, S., Zhang, Y., Wang, Q., Qiao, C., Deng, W., Liang, S., Wei, J., Wei, W., Yu, H., Li, X., et al. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.969575 · Cited by 11 · see citing works

Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry

Jaspers, Y. R. J., Meyer, S. W., Pras‐Raves, M. L., Dijkstra, I. M. E., Wever, E. J. M., Dane, A. D., van Klinken, J. B., Salomons, G. S., Houtkooper, R. H., Engelen, M., et al. (2024) · Journal of Lipid Research · doi:10.1016/j.jlr.2024.100567 · Cited by 10 · see citing works

Hematopoietic stem cell transplantation in leukodystrophies

Sevin, C., & Mochel, F. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00017-x · Cited by 11 · see citing works

Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation

Lin, J., Lu, C., & Tsai, C. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8723-5 · Cited by 11 · see citing works

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

Alcantara, J. R., Grant, N. R., Sethuram, S., Nagy, A. M., Becker, C., Sahai, I., Stanley, T. L., Halper, A., & Eichler, F. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad286 · Cited by 11 · see citing works

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans

Gong, Y., Laheji, F., Berenson, A., Li, Y., Moser, A., Qian, A., Frosch, M., Sadjadi, R., Hahn, R., Maguire, C. A., et al. (2024) · Annals of Neurology · doi:10.1002/ana.26849 · Cited by 11 · see citing works

Pharmacological Complementation Remedies an Inborn Error of Lipid Metabolism

Hartley, M. D., Shokat, M. D., DeBell, M. J., Banerji, T., Kirkemo, L. L., & Scanlan, T. S. (2020) · Cell chemical biology · doi:10.1016/j.chembiol.2020.02.008 · Cited by 11 · see citing works

Advances in gene therapy for neurogenetic diseases: a brief review

Xie, Y., Lv, W., Chen, Y., Hong, S., Yao, X., Chen, W., & Zhao, M. (2021) · Journal of Molecular Medicine · doi:10.1007/s00109-021-02167-y · Cited by 11 · see citing works

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Engelen, M., Kemp, S., & Poll-The, B.-T. (2014) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-014-0486-0 · Cited by 187 · see citing works

Adrenoleukodystrophy

Cappa, M., Bizzarri, C., Vollono, C., Petroni, A., & Banni, S. (2010) · Endocrine development · doi:10.1159/000321236 · Cited by 28 · see citing works

Life unexpected : Unraveling the natural history of adrenoleukodystrophy

Huffnagel, I. C. (2019) · Data Archiving and Networked Services (DANS)

X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should Not Miss

das Neves, P. L., Durães, J., Monteiro, I., Diogo, L. M., & Macário, C. (2023) · Sinapse · doi:10.46531/sinapse/cc/220057/2022

Adrénoleucodystrophie liée à l'X

Aubourg, P. R. (2007) · Annales d Endocrinologie · doi:10.1016/j.ando.2007.04.002 · Cited by 32 · see citing works