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Volumn 76, Issue 5, 1998, Pages 424-427

X-linked adrenoleukodystrophy: Phenotype distribution and expression of ALDP in Spanish kindreds

Author keywords

Adrenoleukodystrophy phenotypes; ALDP; Peroxisomal disorders

Indexed keywords

ADDISON DISEASE; ADOLESCENT; ADOLESCENT DISEASE; ADRENOLEUKODYSTROPHY; ADULT; ADULT DISEASE; ARTICLE; CHILD; CHILDHOOD DISEASE; DEGENERATIVE DISEASE; DISEASE CLASSIFICATION; HUMAN; IMMUNOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MOSAICISM; ONSET AGE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 0032513549     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O     Document Type: Article
Times cited : (13)

References (14)
  • 1
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    • Adrenoleukodystrophy presenting as Addison's disease in children and adults
    • Aubourg P, Chaussian JL (1991): Adrenoleukodystrophy presenting as Addison's disease in children and adults. Trends Endocrinol Metab 2:49-52.
    • (1991) Trends Endocrinol Metab , vol.2 , pp. 49-52
    • Aubourg, P.1    Chaussian, J.L.2
  • 2
    • 33749712784 scopus 로고
    • Mutation analysis of the adrenoleukodystrophy (ALD) gene in Spanish families
    • Barceló A, Girós M, Pàmpols T, Estivill X (1995): Mutation analysis of the adrenoleukodystrophy (ALD) gene in Spanish families. Med Genet 2: 258.
    • (1995) Med Genet , vol.2 , pp. 258
    • Barceló, A.1    Girós, M.2    Pàmpols, T.3    Estivill, X.4
  • 4
    • 33749701189 scopus 로고
    • Adrenoleukodystrophy: Phenotype distribution in a group of 41 Spanish patients with the pathognomonic increase of very long chain fatty acids (VLCFA)
    • Girós M, Ruiz M, Pampols T (1994): Adrenoleukodystrophy: Phenotype distribution in a group of 41 Spanish patients with the pathognomonic increase of very long chain fatty acids (VLCFA). J Neurol [Suppl] 241: 119.
    • (1994) J Neurol [Suppl] , vol.241 , pp. 119
    • Girós, M.1    Ruiz, M.2    Pampols, T.3
  • 6
    • 0026441186 scopus 로고
    • Predictions of a 2-locus model for disease heterogeneity: Applications to adrenoleukodystrophy
    • Maestri NE, Beaty TH (1992): Predictions of a 2-locus model for disease heterogeneity: Applications to adrenoleukodystrophy. Am J Med Genet 44:576-582.
    • (1992) Am J Med Genet , vol.44 , pp. 576-582
    • Maestri, N.E.1    Beaty, T.H.2
  • 7
    • 0029082884 scopus 로고
    • Adrenoleukodystrophy: Natural history, treatment and outcome
    • Moser HW (1995): Adrenoleukodystrophy: Natural history, treatment and outcome. J Inherited Metab Dis 18:435-447.
    • (1995) J Inherited Metab Dis , vol.18 , pp. 435-447
    • Moser, H.W.1
  • 8
    • 0026681106 scopus 로고
    • Adrenoleukodystrophy: Phenotypic variability and implications for therapy
    • Moser HW, Moser AB, Smith KD (1992): Adrenoleukodystrophy: Phenotypic variability and implications for therapy. J Inherited Metab Dis 15:645-664.
    • (1992) J Inherited Metab Dis , vol.15 , pp. 645-664
    • Moser, H.W.1    Moser, A.B.2    Smith, K.D.3
  • 11
    • 0030927265 scopus 로고    scopus 로고
    • ALDP expression in fetal cells and its application to prenatal diagnosis of X-linked adrenoleukodystrophy
    • Ruiz M, Coll M-J, Pampols T, Girós M (1997): ALDP expression in fetal cells and its application to prenatal diagnosis of X-linked adrenoleukodystrophy. Prenat Diagn 17:651-656.
    • (1997) Prenat Diagn , vol.17 , pp. 651-656
    • Ruiz, M.1    Coll, M.-J.2    Pampols, T.3    Girós, M.4
  • 13
    • 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 (1994): Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: A survey of 30 kindreds. Neurology 44:2343-2346.
    • (1994) Neurology , vol.44 , pp. 2343-2346
    • Van Geel, B.M.1    Assies, J.2    Weverling, G.J.3    Barth, P.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.