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Volumn 44, Issue 2, 2000, Pages 104-107

Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland

Author keywords

Arylsulfatase A pseudodeficiency; Metachromatic leukodystrophy

Indexed keywords

CEREBROSIDE SULFATASE;

EID: 0033798464     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000008205     Document Type: Article
Times cited : (5)

References (27)
  • 1
    • 0001245698 scopus 로고
    • Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis
    • Scriver CR, Becaudet AL, Sly WS, Valle D (eds): New York, McGraw-Hill
    • Kolodny EH, Fluharty AL: Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis: in Scriver CR, Becaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 1995, pp 2693-2739.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 2693-2739
    • Kolodny, E.H.1    Fluharty, A.L.2
  • 2
    • 0026713601 scopus 로고
    • Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: Dependence on reduction of arylsulfatase a activity
    • Molzer B, Sundt-Heller R, Kainz-Korschinsky M, Zobel M: Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: Dependence on reduction of arylsulfatase A activity. Am J Med Genet 1992;44:523-526.
    • (1992) Am J Med Genet , vol.44 , pp. 523-526
    • Molzer, B.1    Sundt-Heller, R.2    Kainz-Korschinsky, M.3    Zobel, M.4
  • 3
    • 0342378082 scopus 로고    scopus 로고
    • Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficicncy allele
    • Ługowska A, Tylki-Szymańska A, Berger J, Molzer B: Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficicncy allele. Clin Biochem 1997;30:325-331.
    • (1997) Clin Biochem , vol.30 , pp. 325-331
    • ŁUgowska, A.1    Tylki-Szymańska, A.2    Berger, J.3    Molzer, B.4
  • 4
    • 0024409026 scopus 로고
    • Arylsulfatase A pseudodeficiency: Loss of a N-glycosylation site and a polyadenylation signal
    • Gieselmann V, Polten A, Kreysing J, von Figura K: Arylsulfatase A pseudodeficiency: Loss of a N-glycosylation site and a polyadenylation signal. Proc Natl Acad Sci USA 1989;86:9436-9440.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9436-9440
    • Gieselmann, V.1    Polten, A.2    Kreysing, J.3    Von Figura, K.4
  • 6
    • 0031848945 scopus 로고    scopus 로고
    • Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members
    • Tylki-Szymańska A, Czartoryska B, Ługowska A: Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members. Eur Neurol 1998;40: 67-70.
    • (1998) Eur Neurol , vol.40 , pp. 67-70
    • Tylki-Szymańska, A.1    Czartoryska, B.2    ŁUgowska, A.3
  • 7
    • 0030064040 scopus 로고    scopus 로고
    • Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leukodystrophy patients and healthy subjects from Italy
    • Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R: Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leukodystrophy patients and healthy subjects from Italy. J Med Genet 1996;33:251-252.
    • (1996) J Med Genet , vol.33 , pp. 251-252
    • Regis, S.1    Filocamo, M.2    Stroppiano, M.3    Corsolini, F.4    Gatti, R.5
  • 8
    • 0026100536 scopus 로고
    • An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy
    • Gieselmann V: An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. Hum Genet 1991;86:251-255.
    • (1991) Hum Genet , vol.86 , pp. 251-255
    • Gieselmann, V.1
  • 9
    • 0024500625 scopus 로고
    • Pseudodeficiency of arylsulfatase A: A common genetic polymorphism with possible disease implications
    • Hohenschutz C, Eich P, Friedl W, Waheed A, Conzelmann E, Propping P: Pseudodeficiency of arylsulfatase A: A common genetic polymorphism with possible disease implications. Hum Genet 1989;82:45-48.
    • (1989) Hum Genet , vol.82 , pp. 45-48
    • Hohenschutz, C.1    Eich, P.2    Friedl, W.3    Waheed, A.4    Conzelmann, E.5    Propping, P.6
  • 10
    • 0025844950 scopus 로고
    • Population frequency of the arylsulphatase A pseudodeficiency allele
    • Nelson PV, Carey WF, Morris CP: Population frequency of the arylsulphatase A pseudodeficiency allele. Hum Genet 1991;87:87-88.
    • (1991) Hum Genet , vol.87 , pp. 87-88
    • Nelson, P.V.1    Carey, W.F.2    Morris, C.P.3
  • 13
    • 0028101342 scopus 로고
    • Frequency of arylsulfatase A pseudodeficiency associated mutations in a healthy population
    • Barth ML, Ward C, Harris A, Saad A, Fensom A: Frequency of arylsulfatase A pseudodeficiency associated mutations in a healthy population. J Med Genet 1994;31:667-671.
    • (1994) J Med Genet , vol.31 , pp. 667-671
    • Barth, M.L.1    Ward, C.2    Harris, A.3    Saad, A.4    Fensom, A.5
  • 14
    • 0342836397 scopus 로고
    • Evolutionary relationship and ethnic variations of two tightly linked mutations in the gene coding for the lysosomal enzyme arylsulfatase A
    • Ott AR, Wave JS, Chang PL: Evolutionary relationship and ethnic variations of two tightly linked mutations in the gene coding for the lysosomal enzyme arylsulfatase A. Am J Hum Genet 1994;55:160-161.
    • (1994) Am J Hum Genet , vol.55 , pp. 160-161
    • Ott, A.R.1    Wave, J.S.2    Chang, P.L.3
  • 15
    • 0029818604 scopus 로고    scopus 로고
    • Arylsulfatase A pseudodeficiency-associated mutations: Population studies and identification of a novel haplotype
    • Ricketts MH, Goldman D, Long JC, Manowitz P: Arylsulfatase A pseudodeficiency-associated mutations: Population studies and identification of a novel haplotype. Am J Med Genet 1996;67:387-392.
    • (1996) Am J Med Genet , vol.67 , pp. 387-392
    • Ricketts, M.H.1    Goldman, D.2    Long, J.C.3    Manowitz, P.4
  • 17
    • 0021320194 scopus 로고
    • Arylsulfatase A in pseudodeficiency
    • Herz B, Bach G: Arylsulfatase A in pseudodeficiency. Hum Genet 1984;66:147-150.
    • (1984) Hum Genet , vol.66 , pp. 147-150
    • Herz, B.1    Bach, G.2
  • 20
    • 0342401708 scopus 로고
    • Gene frequency of arylsulfatase A pseudodeficiency in the French population. Implication for heterozygote and prenatal detection and diagnosis of leukodystrophy
    • Annecy
    • Chevalier F, Maire I, Vanier MT, Gieselmann V: Gene frequency of arylsulfatase A pseudodeficiency in the French population. Implication for heterozygote and prenatal detection and diagnosis of leukodystrophy (abstracts). 8th ESGLD Workshop, Annecy 1991, p 14.
    • (1991) 8th ESGLD Workshop , pp. 14
    • Chevalier, F.1    Maire, I.2    Vanier, M.T.3    Gieselmann, V.4
  • 21
    • 0342401709 scopus 로고
    • Detection of arylsulfatase A pseudoalleles by MaeIII cleavage, and searching for mutations in the arylsulfatase A gene
    • Delphi
    • Tidgen MA, Christensen E, Schwartz M: Detection of arylsulfatase A pseudoalleles by MaeIII cleavage, and searching for mutations in the arylsulfatase A gene (abstracts). 9th ESGLD Workshop. Delphi 1993, p 79.
    • (1993) 9th ESGLD Workshop , pp. 79
    • Tidgen, M.A.1    Christensen, E.2    Schwartz, M.3
  • 22
    • 0026356364 scopus 로고
    • Mutations in the arylsulfatase a pseudodeficiency allele causing metachromatic leukodystrophy
    • Gieselmann V, Fluharty AL, Tonnesen T, von Figura K: Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet 1991;49: 407-413.
    • (1991) Am J Hum Genet , vol.49 , pp. 407-413
    • Gieselmann, V.1    Fluharty, A.L.2    Tonnesen, T.3    Von Figura, K.4
  • 23
    • 0027417907 scopus 로고
    • Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain
    • Barth ML, Fensom A, Harris A: Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Hum Genet 1993; 91:73-77.
    • (1993) Hum Genet , vol.91 , pp. 73-77
    • Barth, M.L.1    Fensom, A.2    Harris, A.3
  • 25
    • 0032819354 scopus 로고    scopus 로고
    • Identification of 12 novel mutations and two new polymorphisms in the arylsulphatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients
    • Gort L, Coll JM, Chabas A: Identification of 12 novel mutations and two new polymorphisms in the arylsulphatase A gene: Haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Hum Mutat 1999;14:240-248.
    • (1999) Hum Mutat , vol.14 , pp. 240-248
    • Gort, L.1    Coll, J.M.2    Chabas, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.