메뉴 건너뛰기




Volumn 40, Issue 2, 1996, Pages 254-257

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

Author keywords

[No Author keywords available]

Indexed keywords

VERY LONG CHAIN FATTY ACID;

EID: 0029788562     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400221     Document Type: Article
Times cited : (78)

References (15)
  • 1
    • 0026681106 scopus 로고
    • Adrenoleukodystrophy: Phenotypic variability and implications for therapy
    • Moser HW, Moser AB, Smith KD, et al. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis 1992;15:645-664
    • (1992) J Inherit Metab Dis , vol.15 , pp. 645-664
    • Moser, H.W.1    Moser, A.B.2    Smith, K.D.3
  • 2
    • 0028033905 scopus 로고
    • Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: A survey of 30 kindreds
    • van Geel BM, Assies J, Weverling GJ, Barth PG. Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: a survey of 30 kindreds. Neurology 1994;44:2343-2346
    • (1994) Neurology , vol.44 , pp. 2343-2346
    • Geel, B.M.1    Assies, J.2    Weverling, G.J.3    Barth, P.G.4
  • 3
    • 0028006093 scopus 로고
    • The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
    • Mosser J, Lutz Y, Stoeckel ME, et al. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum Mol Genet 1994;3:265-271
    • (1994) Hum Mol Genet , vol.3 , pp. 265-271
    • Mosser, J.1    Lutz, Y.2    Stoeckel, M.E.3
  • 4
    • 0027997360 scopus 로고
    • Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
    • Fuchs S, Sarde CO, Wedemann H, et al. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum Mol Genet 1994:3:1903-1905
    • (1994) Hum Mol Genet , vol.3 , pp. 1903-1905
    • Fuchs, S.1    Sarde, C.O.2    Wedemann, H.3
  • 5
    • 0030060578 scopus 로고    scopus 로고
    • Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy
    • Krasemann E, Meier V, Korenke GC, et al. Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. Hum Genet 1996:97:194197
    • (1996) Hum Genet , vol.97 , pp. 194197
    • Krasemann, E.1    Meier, V.2    Korenke, G.C.3
  • 6
    • 0026441186 scopus 로고
    • Predictions of a 2-Iocus model for disease heterogeneity: Application to adrenoleukodystrophy
    • Maestri NE, Beaty TH. Predictions of a 2-Iocus model for disease heterogeneity: application to adrenoleukodystrophy. Am J Med Genet 1992;44:576-582
    • (1992) Am J Med Genet , vol.44 , pp. 576-582
    • Maestri, N.E.1    Beaty, T.H.2
  • 7
    • 0028143960 scopus 로고
    • Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins
    • Sobue G, Ueno-Natsukari I, Okamoto H, et al. Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins. Ann Neurol 1994;36:912-915
    • (1994) Ann Neurol , vol.36 , pp. 912-915
    • Sobue, G.1    Ueno-Natsukari, I.2    Okamoto, H.3
  • 8
    • 0000772061 scopus 로고
    • Diagnose von peroxisomalen Erkrankungen-Erfahrungen mit einer empfindlichen massenfragmentographischen Bestimmung der sehr langkettigen Fettsäuren und der Phytansäure im Plasma
    • Abstract
    • Hunneman DH, Hanefeld F. Diagnose von peroxisomalen Erkrankungen-Erfahrungen mit einer empfindlichen massenfragmentographischen Bestimmung der sehr langkettigen Fettsäuren und der Phytansäure im Plasma. Monatsschr Kinderheilkd 1988;136:529 (Abstract)
    • (1988) Monatsschr Kinderheilkd , vol.136 , pp. 529
    • Hunneman, D.H.1    Hanefeld, F.2
  • 9
    • 0028227231 scopus 로고
    • Deletion screening of mitochondria! DNA via multiprimer DNA amplification
    • Ernst BP, Wilichowski E, Wagner M, Hanefeld F. Deletion screening of mitochondria! DNA via multiprimer DNA amplification. Mol Cellul Probes 1994;8:45-49
    • (1994) Mol Cellul Probes , vol.8 , pp. 45-49
    • Ernst, B.P.1    Wilichowski, E.2    Wagner, M.3    Hanefeld, F.4
  • 10
    • 0029074454 scopus 로고
    • Altered expression of ALDP in X-linked adrenoleukodystrophy
    • Watkins PA, Gould SJ, Smith MA, et al. Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet 1995;57:292-301
    • (1995) Am J Hum Genet , vol.57 , pp. 292-301
    • Watkins, P.A.1    Gould, S.J.2    Smith, M.A.3
  • 11
    • 0027978453 scopus 로고
    • Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene
    • Fanen P, Guidoux S, Sarde CO, et al. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 1994;94:516-520
    • (1994) J Clin Invest , vol.94 , pp. 516-520
    • Fanen, P.1    Guidoux, S.2    Sarde, C.O.3
  • 12
    • 0028220889 scopus 로고
    • Increased expression of T-cell markers of immunological memory associated with protection from type I diabetes
    • Peakman M, Alviggi L, Hussain MJ, et al. Increased expression of T-cell markers of immunological memory associated with protection from type I diabetes. Diabetes 1994;43:712-717
    • (1994) Diabetes , vol.43 , pp. 712-717
    • Peakman, M.1    Alviggi, L.2    Hussain, M.J.3
  • 13
    • 0042778607 scopus 로고
    • Left-handedness: Association with immune disease, migraine, and developmental learning disorder
    • Geschwind N, Behan P. Left-handedness: association with immune disease, migraine, and developmental learning disorder. Proc Natl Acad Sei USA 1982;79:5097-5100
    • (1982) Proc Natl Acad Sei USA , vol.79 , pp. 5097-5100
    • Geschwind, N.1    Behan, P.2
  • 14
    • 0027432972 scopus 로고
    • Refsum-Syndrom in einem eineiigen Zwillingspaar
    • Kohnen S, Hammerstein W. Refsum-Syndrom in einem eineiigen Zwillingspaar. Ophthalmologe 1993;90:519-521
    • (1993) Ophthalmologe , vol.90 , pp. 519-521
    • Kohnen, S.1    Hammerstein, W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.