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Volumn 33, Issue 3, 1996, Pages 251-252

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy

Author keywords

Arylsulpharase A gene; Late infantile metachromatic leucodystrophy

Indexed keywords

CEREBROSIDE SULFATASE;

EID: 0030064040     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.3.251     Document Type: Article
Times cited : (19)

References (8)
  • 1
    • 0001245698 scopus 로고
    • Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis
    • Scriver CR, Beaudet 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, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1994:2693-739.
    • (1994) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 2693-2739
    • Kolodny, E.H.1    Fluharty, A.L.2
  • 3
    • 0027434879 scopus 로고
    • Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations
    • Berger J, Molzer B, Gieselmann V, Bernheimer H. Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations. Hum Genet 1993;92:421-3.
    • (1993) Hum Genet , vol.92 , pp. 421-423
    • Berger, J.1    Molzer, B.2    Gieselmann, V.3    Bernheimer, H.4
  • 4
    • 0026100536 scopus 로고
    • An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromic leukodystrophy
    • Gieselmann V. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromic leukodystrophy. Hum Genet 1991;86:251-5.
    • (1991) Hum Genet , vol.86 , pp. 251-255
    • Gieselmann, V.1
  • 5
    • 49749198315 scopus 로고
    • The assay of arylsulfatase A and B in human urine
    • Baum H, Dogson KS, Spencer B. The assay of arylsulfatase A and B in human urine. Clin Chim Acta 1959;4:453-5.
    • (1959) Clin Chim Acta , vol.4 , pp. 453-455
    • Baum, H.1    Dogson, K.S.2    Spencer, B.3
  • 7
    • 0027417907 scopus 로고
    • Prevalence of common mutations in the arylfulatase A gene in metachromatic leukodystrophy patients diagnosed in Britain
    • Earth ML, Fensom A, Harris A. Prevalence of common mutations in the arylfulatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Hum Genet 1993;91:73-7.
    • (1993) Hum Genet , vol.91 , pp. 73-77
    • Earth, M.L.1    Fensom, A.2    Harris, A.3
  • 8
    • 0028180759 scopus 로고
    • "Pseudodeficiencies" of lysosomal hydrolases
    • Thomas GH. "Pseudodeficiencies" of lysosomal hydrolases. Am J Hum Genet 1994;54:934-40.
    • (1994) Am J Hum Genet , vol.54 , pp. 934-940
    • Thomas, G.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.