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X-linked adrenoleukodystrophy
Abstract
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males. Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms; adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults; and Addison disease without neurologic manifestations. These phenotypes are frequently misdiagnosed, respectively, as attention-deficit hyperactivity disorder (ADHD), multiple sclerosis, or idiopathic Addison disease. Approximately 50% of female carriers develop a spastic paraparesis secondary to myelopathic changes similar to adrenomyeloneuropathy. Assays of very long chain fatty acids in plasma, cultured chorion villus cells and amniocytes, and mutation analysis permit presymptomatic and prenatal diagnosis, as well as carrier identification. The timely use of these assays is essential for genetic counseling and therapy. Early diagnosis and treatment can prevent overt Addison disease, and significantly reduce the frequency of the severe childhood cerebral phenotype. A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD.
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“Elevated levels of cerotic acid (C26:0) [overall reference range 0.15–1.9 µmol/l] and the ratios C24:0/C22:0 [0.32–1.19] and C26:0/C22:0 [0.0–0.03] are used for diagnostic purposes (see cutoff level comparison in Table 1 and as previously discussed by Moser et al.9).”
From Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy (2020) · cites this paper as [9]
In the citing paper
“X-linked adrenoleukodystrophy (X-ALD) is clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD) [1,2].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [2]
In the citing paper
“AMN is the most frequent phenotype of X-ALD [1,2].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [2]
Citations
Cites
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Rochester, C. L., & Kradin, R. L. (2000) · New England Journal of Medicine · doi:10.1056/nejm200012213432509 · Cited by 3,875
Perivascular microglial cells of the CNS are bone marrow-derived and present antigen in vivo
Hickey, W. F., & Kimura, H. (1988) · Science · doi:10.1126/science.3276004 · Cited by 1,466
The human ATP-binding cassette (ABC) transporter superfamily
Dean, M., Hamon, Y., & Chimini, G. (2001) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)31588-1 · Cited by 1,302
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-citationAdrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases
Schaumburg, H. H. (1975) · Archives of Neurology · doi:10.1001/archneur.1975.00490510033001 · Cited by 475
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
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
Self-citationAubourg, 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
Singh, I., Moser, A. E., Goldfischer, S. L., & Moser, H. W. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.13.4203 · Cited by 348
Self-citationShapiro, 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
Self-citationAdrenoleukodystrophy: 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
Self-citationAdrenoleukodystrophy: a scoring method for brain MR observations.
(1994) · PubMed Central · Cited by 321
Self-citationKemp, 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 321
Self-citationMigeon, 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
Self-citationThe gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
Mosser, J., Lutz, Y., Stoeckel, M. E., Sarde, C. O., Kretz, C., Douar, A. M., Lopez, J., Aubourg, P., & Mandel, J. L. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.265 · Cited by 281
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
Self-citationPOWERS, J. M., LIU, Y., MOSER, A. B., & MOSER, H. W. (1992) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199211000-00007 · Cited by 265
Self-citationGene 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
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
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
Self-citationFollow-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
Self-citationAdrenoleukodystrophy: 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
Self-citationSingh, I., Moser, A. E., Moser, H. W., & Kishimoto, Y. (1984) · Pediatric Research · doi:10.1203/00006450-198403000-00016 · Cited by 234
Self-citationGriffin, 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
Lazo, O., Contreras, M., Hashmi, M., Stanley, W. S., Irazú, C. E., & Singh, I. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.20.7647 · Cited by 219
Dietary erucic acid therapy for X‐linked adrenoleukodystrophy
Rizzo, W. B., Leshner, R. T., Odone, A., Dammann, A. L., Craft, D. A., Jensen, M. E., Jennings, S. S., Davis, S., Jaitly, R., & Sgro, J. A. (1989) · Neurology · doi:10.1212/wnl.39.11.1415 · Cited by 207
Peroxisomes, lipid metabolism, and peroxisomal disorders
Wanders, R. J. A. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.08.016 · Cited by 205
Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy
Powers, J. M., DeCiero, D. P., Ito, M., Moser, A. B., & Moser, H. W. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.2.89 · Cited by 204
Self-citationPujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pàmpols, T., Giròs, M., & Mandel, J. L. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh323 · Cited by 201
Ho, J. K., Moser, H., Kishimoto, Y., & Hamilton, J. A. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118182 · Cited by 199
Self-citationAdrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts
Moser, H. W., Moser, A., Kawamura, N., Murphy, J., Suzuki, K., Schaumburg, H., & Kishimoto, Y. (1980) · Annals of Neurology · doi:10.1002/ana.410070607 · Cited by 196
Self-citationX-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
Male Donor-derived Cells in the Brains of Female Sex-mismatched Bone Marrow Transplant Recipients
Unger, E. R., SUNG, J. H., Manivel, J. C., Chenggis, M. L., Blazar, B. R., & Krivit, W. A. (1993) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199309000-00004 · Cited by 187
Molecular Cloning of cDNA Encoding Rat Very Long-chain Acyl-CoA Synthetase
Uchiyama, A., Aoyama, T., Kamijo, K., Uchida, Y., Kondo, N., Orii, T., & Hashimoto, T. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.48.30360 · Cited by 157
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
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
Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy
McGuinness, M. C., Lu, J.-F., Zhang, H.-P., Dong, G.-X., Heinzer, A. K., Watkins, P. A., Powers, J., & Smith, K. D. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.2.744-753.2003 · Cited by 147
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
Self-citationAdrenoleukodystrophy: New Approaches to a Neurodegenerative Disease
Moser, H. W., Raymond, G. V., & Dubey, P. (2005) · JAMA · doi:10.1001/jama.294.24.3131 · Cited by 142
Self-citationClinical 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
Self-citationvan 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
Adreno-leukodystrophy: Oxidative Stress of Mice and Men
Powers, J. M., Pei, Z., Heinzer, A. K., Brose, R. D., Moser, A. B., Moser, H. W., Watkins, P. A., & Smith, K. D. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/01.jnen.0000190064.28559.a4 · Cited by 129
Self-citationIto, M., Blumberg, B. M., Mock, D. J., Goodman, A. D., Moser, A. B., Moser, H. W., Smith, K. D., & Powers, J. M. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.10.1004 · Cited by 125
Self-citationPaintlia, A. S., Gilg, A. G., Khan, M., Singh, A. K., Barbosa, E., & Singh, I. (2003) · Neurobiology of Disease · doi:10.1016/j.nbd.2003.08.013 · Cited by 120
Adrenoleukodystrophy: correlating MR imaging with CT.
Kumar, A. J., Rosenbaum, A. E., Naidu, S., Wener, L., Citrin, C. M., Lindenberg, R., Kim, W. S., Zinreich, S. J., Molliver, M. E., & Mayberg, H. S. (1987) · Radiology · doi:10.1148/radiology.165.2.3659373 · Cited by 120
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
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy
Vargas, C. R., Wajner, M., Sirtori, L. R., Goulart, L. D. S., Chiochetta, M., Coelho, D. M., Latini, A., Llesuy, S., Belló‐Klein, A., Giugliani, R., et al. (2003) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2003.10.004 · Cited by 114
Interactions of very long-chain saturated fatty acids with serum albumin
Choi, J., Ho, J., Curry, S., Qin, D., Bittman, R., & Hamilton, J. A. (2002) · Journal of Lipid Research · doi:10.1194/jlr.m200041-jlr200 · Cited by 114
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
Self-citationThe peroxisomal ABC transporter family
Wanders, R. J. A., Visser, W. F., van Roermund, C. W. T., Kemp, S., & Waterham, H. R. (2006) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-006-0142-x · Cited by 111
HUBBARD, W., MOSER, A., TORTORELLI, S., LIU, A., JONES, D., & MOSER, H. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.05.001 · Cited by 108
Self-citationProton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy
Eichler, F., Barker, P. B., Cox, C., Edwin, D. H., Uluğ, A. M., Moser, H. W., & Raymond, G. V. (2002) · Neurology · doi:10.1212/wnl.58.6.901 · Cited by 100
Self-citationIdentification of female carriers of adrenoleukodystrophy
Moser, H. W., Moser, A. E., Trojak, J. E., & Supplee, S. W. (1983) · The Journal of Pediatrics · doi:10.1016/s0022-3476(83)80775-6 · Cited by 99
Self-citationTheda, C., Moser, A. B., Powers, J. M., & Moser, H. W. (1992) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(92)90028-j · Cited by 99
Self-citationElongation 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
Tsuji, S., Suzuki, M., Ariga, T., Sekine, M., Kuriyama, M., & Miyatake, T. (1981) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1981.tb01698.x · Cited by 96
The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria
Powers, J. M., Deciero, D. P., Cox, C., Richfield, E. K., Ito, M., Moser, A. B., & Moser, H. W. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.5.493 · Cited by 96
Self-citationAssessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients
Öz, G., Tkáč, I., Charnas, L. R., Choi, I., Bjoraker, K., Shapiro, E., & Rolf Gruetter, A. (2005) · Neurology · doi:10.1212/01.wnl.0000150906.52208.e7 · Cited by 95
Moser, H. W., Moser, A. B., Powers, J. M., Nitowsky, H. M., Schaumburg, H. H., Norum, R. A., & Migeon, B. R. (1982) · Pediatric Research · doi:10.1203/00006450-198203000-00002 · Cited by 86
Self-citationTroffer-Charlier, N., Doerflinger, N., Metzger, E., Fouquet, F., Mandel, J.-L., & Aubourg, P. (1998) · European Journal of Cell Biology · doi:10.1016/s0171-9335(98)80121-0 · Cited by 85
The molecular basis of CD 1 ‐mediated presentation of Iipid antigens
Moody, D. B., Besra, G. S., Wilson, I. A., & Porceili, S. A. (1999) · Immunological Reviews · doi:10.1111/j.1600-065x.1999.tb01373.x · Cited by 85
Brain gangliosides in adrenoleukodystrophy1
Igarashi, M., Belchjs, D., & Suzuki, K. (1976) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1976.tb01593.x · Cited by 81
Koelman (1996) · doi:10.1212/wnl.46.1.112 · Cited by 78
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
Self-citationTSUJI, S., SANO, T., ARIGA, T., & MIYATAKE, T. (1981) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a133578 · Cited by 73
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
Self-citationPai, G. S., Khan, M., Barbosa, E., Key, L. L., Craver, J. R., Curé, J. K., Betros, R., & Singh, I. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.2977 · Cited by 70
Peroxisomal β‐Oxidation: Enzymology and Molecular Biologya
Hashimoto, T. (1996) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1996.tb18610.x · Cited by 66
Gilg, A. G., Singh, A. K., & Singh, I. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.12.1063 · Cited by 66
Experience on Therapy of Adrenoleukodystrophy and Adrenomyeloneuropathy
Uziel, G., Bertini, E., Bardelli, P., Rimoldi, M., & Gambetti, M. (1991) · Developmental Neuroscience · doi:10.1159/000112173 · Cited by 65
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
Self-citationPoulos, A., Singh, H., Paton, B. C., Sharp, P. C., & Derwas, N. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb00511.x · Cited by 63
Benhamida, S., Pflumio, F., Dubart-Kupperschmitt, A., Zhao-Emonet, J.-C., Cavazzana-Calvo, M., Rocchiccioli, F., Fichelson, S., Aubourg, P., Charneau, P., & Cartier, N. (2003) · Molecular Therapy · doi:10.1016/s1525-0016(03)00002-9 · Cited by 61
Fatty Acid Composition of Human Myelin Proteolipid Protein in Peroxisomal Disorders
Bizzozero, O. A., Zuñiga, G., & Lees, M. B. (1991) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1991.tb02003.x · Cited by 61
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
Self-citationRestuccia, D. (1997) · Brain · doi:10.1093/brain/120.7.1139 · Cited by 53
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
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
Self-citationThyroid Hormone Induction of the Adrenoleukodystrophy-Related Gene (ABCD2)
Fourcade, S., Savary, S., Gondcaille, C., Berger, J., Netik, A., Cadepond, F., El‐Etr, M., Molzer, B., & Bugaut, M. (2003) · Molecular Pharmacology · doi:10.1124/mol.63.6.1296 · Cited by 41
Diffusion tensor–based imaging reveals occult abnormalities in adrenomyeloneuropathy
Dubey, P., Fatemi, A., Huang, H., Nagae‐Poetscher, L., Wakana, S., Barker, P. B., van Zijl, P., Moser, H. W., Mori, S., & Raymond, G. V. (2005) · Annals of Neurology · doi:10.1002/ana.20643 · Cited by 40
Self-citationOezen, I., Rossmanith, W., Forss‐Petter, S., Kemp, S., Voigtländer, T., Moser-Thier, K., Wanders, R. J. A., Bittner, R. E., & Berger, J. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi125 · Cited by 37
Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den BOSCH, H., & Schalkwijk, C. (1988) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01804228 · Cited by 34
Cognitive Evaluation of Neurologically Asymptomatic Boys With X-linked Adrenoleukodystrophy
Cox, C., Dubey, P., Raymond, G. V., Mahmood, A., Moser, A. B., & Moser, H. W. (2006) · Archives of Neurology · doi:10.1001/archneur.63.1.69 · Cited by 33
Self-citationX-linked adrenoleukodystrophy in patients with idiopathic Addison disease
Jorge, P., Quelhas, D., Oliveira, P., Pinto, R. A., & Nogueira, A. (1994) · European Journal of Pediatrics · doi:10.1007/bf02190668 · Cited by 31
The correlation between biochemical and histopathological findings in adrenoleukodystrophy
Reinecke, C. J., Knoll, D. P., Pretorius, P. J., Steyn, H. S., & Simpson, R. H. W. (1985) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(85)90184-4 · Cited by 29
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
Self-citationDi Biase, A., Di Benedetto, R., Fiorentini, C., Travaglione, S., Salvati, S., Attorri, L., & Pietraforte, D. (2004) · Neurochemistry International · doi:10.1016/s0197-0186(03)00162-1 · Cited by 24
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
Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophy
Nowaczyk, M. G. J. M., Saunders, E. F., Tein, I., Blasér, S., & Clarke, J. T. R. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)80076-5 · Cited by 20
Braiterman, L. T., Watkins, P. A., Moser, A. B., & Smith, K. D. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1998.2789 · Cited by 19
Adrenoleukodystrophy And Other Peroxisomal Disorders
Moser, H. W., & Brereton, N. H. (2005) · doi:10.1093/oso/9780195165647.003.0045 · Cited by 13
Self-citationBiochemical effect of intravenous arginine butyrate in x-linked adrenoleukodystrophy
McGovern, M. M., Wasserstein, M., Aron, A. M., & Perrine, S. P. (2003) · The Journal of Pediatrics · doi:10.1067/mpd.2003.201 · Cited by 10
Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment
Zhang, L. X. (2003) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.74.6.822 · Cited by 9
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
Self-citation'Identical' twins with discordant karyotypes
(1999) · Pure Amsterdam UMC · doi:10.1002/(sici)1097-0223(199901)19:1 · Cited by 1
Self-citationIncreased activity of surviving locus ceruleus neurons in Alzheimer's disease
Moser (1999) · Pure Amsterdam UMC · doi:10.1002/1531-8249(199901)45:1
Self-citation
Research works printed but not linked: 2
- Koehler W and Sokolowski P (2005) Clinical phenotypes, diagnosis and treatment of adulthood X-linked adrenoleukodystrophy. In Understanding and Treating Adrenoleukodystrophy. Present State and Future Perspectives, 28–60 (Eds Berger J et al.) SPS Verlagsgessellschaft: Heilbronn
- Mahmood A et al. (2005) Evaluating survival in nontransplanted boys with the cerebral phenotype of X-linked adrenoleukodystrophy [abstract]. Ann Neurol 58 (Suppl 9): 52a
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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
Miller, D. T., Lee, K., Chung, W. K., GORDON, A. S., Herman, G. E., Klein, T. E., Stewart, D. R., Amendola, L. M., Adelman, K., Bale, S. J., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01172-3 · Cited by 538
Plant ATP-Binding Cassette Transporters
Rea, P. A. (2007) · Annual Review of Plant Biology · doi:10.1146/annurev.arplant.57.032905.105406 · Cited by 513
Schmahmann, J. D., Smith, E. E., Eichler, F., & Filley, C. M. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1444.017 · Cited by 512
Metadata
- Authors
- Moser, H. W., Mahmood, A., & Raymond, G. V.
- Affiliations
- Kennedy Krieger Institute (US)
- Corresponding author
- Raymond, Gerald V
- ORCID
- Raymond, Gerald V
- Venue
- Nature Clinical Practice Neurology
- Published
- 2007-03
- Volume
- 3
- Issue
- 3
- Pages
- 140-151
- ISSN
- 1745-834X (ISSN-L)
- 1745-8358
- OpenAlex
- W2222090074
- Cited by
- 663
- References
- 99
- Citations by year
- 2026: 15 · 2025: 20 · 2024: 26 · 2023: 22 · 2022: 20 · 2021: 21 · 2020: 28 · 2019: 17 · 2018: 23 · 2017: 24 · 2016: 27 · 2015: 21 · 2014: 39 · 2013: 28 · 2012: 39
- FWCI
- 5.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Clinical Practice Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- National Institutes of Health
- U.S. Public Health Service (M0-1-R00052)
- National Center for Research Resources
- NIH Clinical Center
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD039276, HD-10981, HD39276, P01HD010981)
- 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
- X-linked adrenoleukodystrophy, ABCD1 gene, very long chain fatty acids, peroxisomal membrane proteins, ABC transporters, adrenomyeloneuropathy, Addison's disease, newborn screening, prenatal diagnosis, carrier identification, Lorenzo's oil, genetic counseling, misdiagnosis
- MeSH terms
- Adrenoleukodystrophy, Drug Combinations, Erucic Acids, Humans, Magnetic Resonance Imaging, Phenotype, Triolein, Hematopoietic Stem Cell Transplantation
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