Delay in diagnosis of X-linked adrenoleukodystrophy

Wanders, 1988, Direct evidence that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids, Biochem. Biophys. Res. Commun., 153, 618, 10.1016/S0006-291X(88)81140-9 Lazo, 1989, Adrenoleukodystrophy: Impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency, Arch. Biochem. Biophys., 270, 722, 10.1016/0003-9861(89)90555-9 Schaumburg, 1975, Adrenoleukodystrophy: A clinical and pathological study of 17 cases, Arch. Neurol., 33, 577, 10.1001/archneur.1975.00490510033001 Powers, 1981, The testis in adrenoleukodystrophy, Am. J. Pathol., 102, 90 Griffin, 1977, Adrenomyeloneuropathy: a probable variant of adrenoleuko dystrophy, Neurology, 27, 1107, 10.1212/WNL.27.12.1107 Budka, 1976, Spastic paraplegia associated with Addison's disease: adult variant of adrenoleukodystrophy, J. Neurol., 213, 237, 10.1007/BF00312873 Moser, 1991, Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy, Dev. Neurosci., 13, 254, 10.1159/000112170 Moser, 1981, Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids, Neurology, 31, 1241, 10.1212/WNL.31.10.1241 Moser, 1980, Adrenoleukodystrophy: elevated C-26 fatty acid in cultured skin fibroblasts, Ann. Neurol., 7, 542, 10.1002/ana.410070607 Moser, 1983, Identification of female carriers of adrenoleukodystrophy, J. Pediatr., 103, 54, 10.1016/S0022-3476(83)80775-6 Moser, 1982, The prenatal diagnosis of adrenoleukodystrophy: demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland, Pediatr. Res., 16, 172, 10.1203/00006450-198203000-00002 Feil, 1991, Adrenoleu kodystrophy: a complex rearrangement in the Xq28 red/ green color pigment gene region indicates two possible gene localizations, Am. J. Hum. Genet., 49, 1361 Mosser, 1993, Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters, Nature, 361, 726, 10.1038/361726a0 Wanders, 1987, X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters, Clin. Chim. Acta., 165, 321, 10.1016/0009-8981(87)90177-X Aubourg, 1991, Adrenoleuko dystrophy presenting as Addison's disease in children and adults, Trends Endocrinol. Metab., 2, 49, 10.1016/1043-2760(91)90039-P Sadeghi-Nejad, 1990, Adrenomyeloneuropathy presenting as Addison's disease in childhood, N. Engl. J. Med., 322, 13, 10.1056/NEJM199001043220103 Dooley, 1984, Adrenoleukodystrophy mimicking multiple sclerosis, Can. J. Neurol. Sci., 12, 73, 10.1017/S0317167100046631 Rizzo, 1987, Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels, Ann. Neurol., 21, 232, 10.1002/ana.410210304 Rizzo, 1989, Dietary erucic acid therapy for X-linked adrenoleukodystrophy, Neurology, 30, 1415, 10.1212/WNL.39.11.1415 Aubourg, 1990, Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation, N. Engl. J. Med., 322, 1860, 10.1056/NEJM199006283222607 Moser, 1992, Adrenoleukodystrophy: phenotypic variability and implications for therapy, J. Inherit. Metab. Dis., 15, 645, 10.1007/BF01799621 Naidu, 1988, Childhood adrenoleukodystrophy: failure of intensive Immunosuppression to arrest neurologic progression, Arch. Neurol., 45, 846, 10.1001/archneur.1988.00520320032011 Moser, 1989, Adrenoleukodystrophy (X-linked), 1511