-
1
-
-
0030751530
-
X-linked adrenoleukodystrophy: Clinical presentation, diagnosis and therapy
-
Jul
-
Van Geel BM, Assies J, Wanders RJA, Barth PG. X-linked adrenoleukodystrophy: clinical presentation, diagnosis and therapy. J Neurol Neurosurg Psychiatry 1997 Jul;63(1):4-14.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.63
, Issue.1
, pp. 4-14
-
-
Van Geel, B.M.1
Assies, J.2
Wanders, R.J.A.3
Barth, P.G.4
-
2
-
-
0035071054
-
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
-
Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001;49:S12-7.
-
(2001)
Ann Neurol
, vol.49
-
-
Bezman, L.1
Moser, A.B.2
Raymond, G.V.3
Rinaldo, P.4
Watkins, P.A.5
Smith, K.D.6
-
3
-
-
0026410137
-
Peroxisomal Fatty acid B-oxidation in adrenoleukodystrophy
-
Wanders RJA, Tager JA. Peroxisomal Fatty acid B-oxidation in adrenoleukodystrophy. Dev Neurosci 1991;13:262-6.
-
(1991)
Dev Neurosci
, vol.13
, pp. 262-266
-
-
Wanders, R.J.A.1
Tager, J.A.2
-
4
-
-
0001112876
-
Peroxisomal Iignoceroyl CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy
-
Lazo D, Contreras M, Hashmi M, Stanley W, Irazu C, Singh T. Peroxisomal Iignoceroyl CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. Proc Natl Acad Sci USA 1988;85:7647-51.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 7647-7651
-
-
Lazo, D.1
Contreras, M.2
Hashmi, M.3
Stanley, W.4
Irazu, C.5
Singh, T.6
-
5
-
-
0017186403
-
Histochemical characteristics of the striated inclusions of adrenoleukodystrophy
-
Johnson AB, Schaumburg HH, Powers JM. Histochemical characteristics of the striated inclusions of adrenoleukodystrophy. J Histochem Cytochem 1976; 24:725-30.
-
(1976)
J Histochem Cytochem
, vol.24
, pp. 725-730
-
-
Johnson, A.B.1
Schaumburg, H.H.2
Powers, J.M.3
-
6
-
-
0006225132
-
Brozzkrankheit und sclerosierende encephalomyelitis
-
Siemerling E, Creudzfeldt HG. Brozzkrankheit und sclerosierende encephalomyelitis. Arch fr psychiatrie 1923;68:217-44.
-
(1923)
Arch Fr Psychiatrie
, vol.68
, pp. 217-244
-
-
Siemerling, E.1
Creudzfeldt, H.G.2
-
7
-
-
0017608047
-
Adrenomyeloneuropathy: A possible variant of adrenoleukodystrophy
-
Griffen JW, Goren E, Schaumburg H, Engel WK, Loriaux L. Adrenomyeloneuropathy: a possible variant of adrenoleukodystrophy. Neurol 1977;27: 1107-13.
-
(1977)
Neurol
, vol.27
, pp. 1107-1113
-
-
Griffen, J.W.1
Goren, E.2
Schaumburg, H.3
Engel, W.K.4
Loriaux, L.5
-
8
-
-
0017144959
-
Spastic paraplegia associated with Addison's disease: A variant of adrenoleukodystrophy
-
Budka H, Sluga E, Heiss WD. Spastic paraplegia associated with Addison's disease: a variant of adrenoleukodystrophy. J Neurol 1976;213:237-50.
-
(1976)
J Neurol
, vol.213
, pp. 237-250
-
-
Budka, H.1
Sluga, E.2
Heiss, W.D.3
-
9
-
-
0343558600
-
Adrenoleukodystrophy: Evidence for X linkage, inactivation, and selection favoring the mutant allele in the heterozygous cells
-
Migeon BR, Moser HW, Moser AB, Axelman J, Sillenece D, Norum RA. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in the heterozygous cells. Proc Natl Acad Sci USA 1982;78:5066-70.
-
(1982)
Proc Natl Acad Sci USA
, vol.78
, pp. 5066-5070
-
-
Migeon, B.R.1
Moser, H.W.2
Moser, A.B.3
Axelman, J.4
Sillenece, D.5
Norum, R.A.6
-
10
-
-
0028890665
-
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
-
Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, et al. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet 1995;56:44-50.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 44-50
-
-
Ligtenberg, M.J.1
Kemp, S.2
Sarde, C.O.3
Van Geel, B.M.4
Kleijer, W.J.5
Barth, P.G.6
-
11
-
-
0026410751
-
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy
-
Moser HW, Moser AJB, Naidu S, Bergin A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991;13:254-61.
-
(1991)
Dev Neurosci
, vol.13
, pp. 254-261
-
-
Moser, H.W.1
Moser, A.J.B.2
Naidu, S.3
Bergin, A.4
-
12
-
-
0028033905
-
Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands
-
Van Geel BM, Assies J, Weverling GJ, Barth PG. Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands. Neurol 1994;44:2243-6.
-
(1994)
Neurol
, vol.44
, pp. 2243-2246
-
-
Van Geel, B.M.1
Assies, J.2
Weverling, G.J.3
Barth, P.G.4
-
13
-
-
0021221490
-
Adrenoleukodystrophy: A clinical variant presenting as olivopontocerebellar atrophy
-
Ohno T, Tsuchida H, Fukuhara N, Yuasa T, Harayama H, Tsjui S, et al. Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy. J Neurol 1984;231:167-9.
-
(1984)
J Neurol
, vol.231
, pp. 167-169
-
-
Ohno, T.1
Tsuchida, H.2
Fukuhara, N.3
Yuasa, T.4
Harayama, H.5
Tsjui, S.6
-
14
-
-
0019431106
-
The testis in adrenoleukodystrophy
-
Powers JM, Schaumburg HH. The testis in adrenoleukodystrophy. Am J Pathol 1981;102:90-8.
-
(1981)
Am J Pathol
, vol.102
, pp. 90-98
-
-
Powers, J.M.1
Schaumburg, H.H.2
-
15
-
-
0032932397
-
Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29 000 controls
-
Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, et al. Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29 000 controls. Ann Neurol 1999;45:100-10.
-
(1999)
Ann Neurol
, vol.45
, pp. 100-110
-
-
Moser, A.B.1
Kreiter, N.2
Bezman, L.3
Lu, S.4
Raymond, G.V.5
Naidu, S.6
-
16
-
-
0021914522
-
Adrenoleukodystrophy mimicking multiple sclerosis
-
Dooley JM, Wright BA. Adrenoleukodystrophy mimicking multiple sclerosis. J Can Sci Neurol 1985;12:73-4.
-
(1985)
J Can Sci Neurol
, vol.12
, pp. 73-74
-
-
Dooley, J.M.1
Wright, B.A.2
-
18
-
-
0026597218
-
Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy
-
Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, Lamaitre A, Boureau F, Mayer M, et al. Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy. Neurol 1992;42:85-91.
-
(1992)
Neurol
, vol.42
, pp. 85-91
-
-
Aubourg, P.1
Adamsbaum, C.2
Lavallard-Rousseau, M.C.3
Lamaitre, A.4
Boureau, F.5
Mayer, M.6
-
19
-
-
0021963046
-
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe
-
Boue J, Oberle I, Mandel JL, Moser HW, Larsen JW, Dumez Y, et al. First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. J Hum Genet 1985;69:272-4.
-
(1985)
J Hum Genet
, vol.69
, pp. 272-274
-
-
Boue, J.1
Oberle, I.2
Mandel, J.L.3
Moser, H.W.4
Larsen, J.W.5
Dumez, Y.6
-
20
-
-
0025177399
-
Adrenomyeloneuropathy presenting as Addison's disease in childhood
-
Sadeghi-Nejad A, Senior B. Adrenomyeloneuropathy presenting as Addison's disease in childhood. New Engl J Med 1990;322:13-6.
-
(1990)
New Engl J Med
, vol.322
, pp. 13-16
-
-
Sadeghi-Nejad, A.1
Senior, B.2
-
21
-
-
0030024842
-
X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients
-
Lauretti S, Casucci G, Santeusanio F, Angeletti G, Aubourg P, Brunetti P. X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. J Clin Endocrinol Metab 1996;81:470-4.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 470-474
-
-
Lauretti, S.1
Casucci, G.2
Santeusanio, F.3
Angeletti, G.4
Aubourg, P.5
Brunetti, P.6
-
22
-
-
0026569504
-
Screening of patients with heredity spastic paraparesis and Addison's disease for adrenoleukodystrophy/adrenomyeloneuropathy
-
Holmberg BH, Hagg E, Duchek M, Hagenfeldt L. Screening of patients with heredity spastic paraparesis and Addison's disease for adrenoleukodystrophy/ adrenomyeloneuropathy. Acta Neurol Scand 1992;85:147-9.
-
(1992)
Acta Neurol Scand
, vol.85
, pp. 147-149
-
-
Holmberg, B.H.1
Hagg, E.2
Duchek, M.3
Hagenfeldt, L.4
-
23
-
-
0343562896
-
Therapy of X-linked adrenoleukodystrophy
-
Desnick RJ, ed. New York: Churchill Livingstone
-
Moser HW, Aoubourg P, Cornblath D. Therapy of X-linked adrenoleukodystrophy. In: Desnick RJ, ed. Treatment of genetic diseases. New York: Churchill Livingstone; 1991. p. 111-29.
-
(1991)
Treatment of Genetic Diseases
, pp. 111-129
-
-
Moser, H.W.1
Aoubourg, P.2
Cornblath, D.3
-
24
-
-
0023125475
-
Adrenoleukodystrophy:dietary oleic acid lowers hexacosanoate levels
-
Rizzo WB, Phillips MW, Damman AL. Adrenoleukodystrophy:dietary oleic acid lowers hexacosanoate levels. Ann Neurol 1987;21:232-9.
-
(1987)
Ann Neurol
, vol.21
, pp. 232-239
-
-
Rizzo, W.B.1
Phillips, M.W.2
Damman, A.L.3
-
25
-
-
0020316966
-
Adrenoleukodystrophy: Effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids
-
Brown FR, Van Duyn MA, Moser AB. Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids. Johns Hopkins Med J 1982;151:164-72.
-
(1982)
Johns Hopkins Med J
, vol.151
, pp. 164-172
-
-
Brown, F.R.1
Van Duyn, M.A.2
Moser, A.B.3
-
26
-
-
0027186364
-
A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy
-
Aubourg PK, Adamsbaum C, Lavallard-Rousseau MC, Rocchiccioli F, Carrier N, Jambaque I, et al. A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy. New Engl J Med 1993;329: 745-52.
-
(1993)
New Engl J Med
, vol.329
, pp. 745-752
-
-
Aubourg, P.K.1
Adamsbaum, C.2
Lavallard-Rousseau, M.C.3
Rocchiccioli, F.4
Carrier, N.5
Jambaque, I.6
-
27
-
-
0026410138
-
Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy
-
Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetri M. Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991;13;274-9.
-
(1991)
Dev Neurosci
, vol.13
, pp. 274-279
-
-
Uziel, G.1
Bertini, E.2
Bardelli, P.3
Rimoldi, M.4
Gambetri, M.5
-
28
-
-
4243904473
-
Bone marrow transplantation for adrenoleukodystrophy
-
Weinberg K, Moser A, Watkins P, Lenarsky C, Winter S, Moser H, et al. Bone marrow transplantation for adrenoleukodystrophy [abstract]. Pediatr Res 1988;23:334A.
-
(1988)
Pediatr Res
, vol.23
-
-
Weinberg, K.1
Moser, A.2
Watkins, P.3
Lenarsky, C.4
Winter, S.5
Moser, H.6
-
29
-
-
0025329012
-
Reversible of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation
-
Aubourg P, Blance S, Jahnbaque I, Kalifa G. Reversible of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. New Engl J Med 1990;322:1860-6.
-
(1990)
New Engl J Med
, vol.322
, pp. 1860-1866
-
-
Aubourg, P.1
Blance, S.2
Jahnbaque, I.3
Kalifa, G.4
-
30
-
-
0019353202
-
Adrenoleukodystrophy. Failure of immunosuppression to prevent neurologic progression
-
Stumpf DA, Hayward A, Haas R, Schuamburg HH. Adrenoleukodystrophy. Failure of immunosuppression to prevent neurologic progression. Arch Neurol 1991;38:48-9.
-
(1991)
Arch Neurol
, vol.38
, pp. 48-49
-
-
Stumpf, D.A.1
Hayward, A.2
Haas, R.3
Schuamburg, H.H.4
-
31
-
-
0023715704
-
Intensive immunosuppression fails to alter neurological progression in childhood adrenoleukodystrophy
-
Naidu S, Bresnan MJ, Griffen D, O'toole S, Moser HW. Intensive immunosuppression fails to alter neurological progression in childhood adrenoleukodystrophy. Arch Neurol 1988;45:846-8.
-
(1988)
Arch Neurol
, vol.45
, pp. 846-848
-
-
Naidu, S.1
Bresnan, M.J.2
Griffen, D.3
O'toole, S.4
Moser, H.W.5
-
32
-
-
0024498871
-
Clinical improvement of adrenoleukodystrophy following intravenous gammaglobulin therapy
-
Miike T, Taku K, Tamura T, Ohta J, Ozaki MY, Sakai T, et al. Clinical improvement of adrenoleukodystrophy following intravenous gammaglobulin therapy. Brain Dev 1989;11:134-7.
-
(1989)
Brain Dev
, vol.11
, pp. 134-137
-
-
Miike, T.1
Taku, K.2
Tamura, T.3
Ohta, J.4
Ozaki, M.Y.5
Sakai, T.6
-
33
-
-
0025059497
-
Pentoxyfilline inhibits lipopolysaccharide-induced serum tumor necrosis factor and mortality
-
Noel P, Nelson S, Bokulic R, Bagby G, Lippton H, Lipscomb G, et al. Pentoxyfilline inhibits lipopolysaccharide-induced serum tumor necrosis factor and mortality. Life Sci 1990;47:1023-9.
-
(1990)
Life Sci
, vol.47
, pp. 1023-1029
-
-
Noel, P.1
Nelson, S.2
Bokulic, R.3
Bagby, G.4
Lippton, H.5
Lipscomb, G.6
-
34
-
-
0032480227
-
Lovastatin for X linked adrenoleukodystrophy
-
Singh I, Khan M, Key L, Pai S. Lovastatin for X linked adrenoleukodystrophy. N Engl J Med 1998;309:702-3.
-
(1998)
N Engl J Med
, vol.309
, pp. 702-703
-
-
Singh, I.1
Khan, M.2
Key, L.3
Pai, S.4
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