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Volumn 14, Issue 5, 1997, Pages 369-372

Ichthyosis: The skin manifestation of multiple sulfatase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; STERYL SULFATASE; SULFATASE;

EID: 1842294539     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1525-1470.1997.tb00984.x     Document Type: Article
Times cited : (16)

References (12)
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    • Austin J, Armstong D, Shearer L. Metachromatic form of diffuse cerebral sclerosis. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy. Arch Neurol 1965;13:593-614.
    • (1965) Arch Neurol , vol.13 , pp. 593-614
    • Austin, J.1    Armstong, D.2    Shearer, L.3
  • 3
    • 0002426287 scopus 로고
    • Steroid sulfatase deficiency and X-linked ichthyosis
    • Scriver CR, Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. New York: McGraw-Hill
    • Ballabio A, Shapiro LJ. Steroid sulfatase deficiency and X-linked ichthyosis. In: Scriver CR, Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995:2999-3022.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , pp. 2999-3022
    • Ballabio, A.1    Shapiro, L.J.2
  • 4
    • 0029130352 scopus 로고
    • A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
    • Schmidt B, Seimer T, Ingendoh A, von Figura K. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell 1995;82:271-278.
    • (1995) Cell , vol.82 , pp. 271-278
    • Schmidt, B.1    Seimer, T.2    Ingendoh, A.3    Von Figura, K.4
  • 5
    • 0001245698 scopus 로고
    • Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis
    • Scriver CR, Stanbury JB. Wyngaarden JB. Fredrickson DS, eds. New York: McGraw-Hill
    • Kolodny EH, Fluharty AL. Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In: Scriver CR, Stanbury JB. Wyngaarden JB. Fredrickson DS, eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill. 1995:2693-2738.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , pp. 2693-2738
    • Kolodny, E.H.1    Fluharty, A.L.2
  • 7
    • 0026841190 scopus 로고
    • Saudi variant of multiple sulfatase deficiency
    • al Aqeel A, Ozand PT, Brisnar J, et al. Saudi variant of multiple sulfatase deficiency. J Child Neurol 1992;suppl 7:S12-S21.
    • (1992) J Child Neurol , Issue.7 SUPPL.
    • Al Aqeel, A.1    Ozand, P.T.2    Brisnar, J.3
  • 8
    • 0026594366 scopus 로고
    • Multiple sulfatase deficiency: Catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs
    • Rommerskirch W, von Figura K. Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. Proc Natl Acad Sci USA 1992;89:2561-2573.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 2561-2573
    • Rommerskirch, W.1    Von Figura, K.2
  • 9
    • 0022391327 scopus 로고
    • Multiple sulfatase deficiency: Degradation of arylsulfatase a and B after endocytosis in fibroblasts
    • Steckel F, Hasilik A, von Figura K. Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts. Eur J Biochem 1985;151:147-152.
    • (1985) Eur J Biochem , vol.151 , pp. 147-152
    • Steckel, F.1    Hasilik, A.2    Von Figura, K.3
  • 10
    • 0022363025 scopus 로고
    • Synthesis and stability of arylsulfatase a and B in fibroblasts from multiple sulfatase deficiency
    • Steckel F, Hasilik A, von Figura K. Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency. Eur J Biochem 1985;151:141-145.
    • (1985) Eur J Biochem , vol.151 , pp. 141-145
    • Steckel, F.1    Hasilik, A.2    Von Figura, K.3
  • 11
    • 0021238978 scopus 로고
    • Complementation of multiple sulfatase deficiency in somatic cell hybrids
    • Fedde K, Horwitz AL. Complementation of multiple sulfatase deficiency in somatic cell hybrids. Am J Hum Genet 1984;36:623-633.
    • (1984) Am J Hum Genet , vol.36 , pp. 623-633
    • Fedde, K.1    Horwitz, A.L.2
  • 12
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    • Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulfatase deficiency
    • Ballabio A, Parenti G, Napolitano E, Di Natale P, Andria G. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulfatase deficiency. Hum Genet 1985;70:315-319.
    • (1985) Hum Genet , vol.70 , pp. 315-319
    • Ballabio, A.1    Parenti, G.2    Napolitano, E.3    Di Natale, P.4    Andria, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.