메뉴 건너뛰기




Volumn 42, Issue 2, 2000, Pages 115-117

Arylsulfatase A pseudodeficiency incidence in Turkey

Author keywords

Arylsulfatase A; Metachromatic leukodystrophy; Pseudodeficiency

Indexed keywords

CEREBROSIDE SULFATASE;

EID: 0034170437     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (8)

References (18)
  • 1
    • 0028101342 scopus 로고
    • Frequency of arylsulfatase A pseudodeficiency associated in a healthy population
    • Barth ML, Ward C, Harris A, Saad A, Fenson A. Frequency of arylsulfatase A pseudodeficiency associated 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    Fenson, A.5
  • 5
    • 0016845458 scopus 로고
    • Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy
    • Dubois G, Turpin JC, Baumann N. Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy. N Engl J Med 1975; 293: 302.
    • (1975) N Engl J Med , vol.293 , pp. 302
    • Dubois, G.1    Turpin, J.C.2    Baumann, N.3
  • 6
    • 0026356364 scopus 로고
    • Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy
    • Gieselmann V, Fuharty 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    Fuharty, A.L.2    Tonnesen, T.3    Von Figura, K.4
  • 7
    • 0024409026 scopus 로고
    • Arylsulfatase A pseudodeficiency: Loss of a polyadenylation signal and N-glycosylation site
    • Gieselmann V, Polten A, Kreysing J, von Figura K. Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal and N-glycosylation site. 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
  • 8
    • 0001245698 scopus 로고
    • Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D, (eds). New York: McGraw-Hill
    • th ed). New York: McGraw-Hill; 1994: 2693-2739.
    • (1994) th Ed) , pp. 2693-2739
    • Kolodny, E.H.1    Fluharty, A.L.2
  • 9
    • 0023183869 scopus 로고
    • A simple chromogenic assay for arylsulphatase A
    • Lee-Vaupel M, Conzelmann E. A simple chromogenic assay for arylsulphatase A. Clin Chim Acta 1987; 164; 171-180.
    • (1987) Clin Chim Acta , vol.164 , pp. 171-180
    • Lee-Vaupel, M.1    Conzelmann, E.2
  • 10
    • 0017131136 scopus 로고
    • Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy
    • Lott IT, Dulaney JT, Milunsky A, Hoefnagel D, Moser HW. Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr 1976; 89: 438-440.
    • (1976) J Pediatr , vol.89 , pp. 438-440
    • Lott, I.T.1    Dulaney, J.T.2    Milunsky, A.3    Hoefnagel, D.4    Moser, H.W.5
  • 12
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1
  • 13
    • 0025844950 scopus 로고
    • Population frequency of arylsulfatase A pseudo-deficiency allele
    • Nelson PV, Carey WF, Morris CP. Population frequency of arylsulfatase A pseudo-deficiency 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
  • 15
    • 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
  • 17
    • 0026410355 scopus 로고
    • Psedodeficiencies of arylsulfatase A and galactocerebrosidase activites
    • Wenger DA, Louie E. Psedodeficiencies of arylsulfatase A and galactocerebrosidase activites. Dev Neurosci 1991; 13: 216-221.
    • (1991) Dev Neurosci , vol.13 , pp. 216-221
    • Wenger, D.A.1    Louie, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.