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Volumn 197, Issue 1, 1998, Pages 52-54

Angiokeratoma corporis diffusum associated with galactosialidosis

Author keywords

Angiokeratoma corporis diffusum; Electron microscopy; Galactosialidosis; PCR restriction site analysis

Indexed keywords

BETA GALACTOSIDASE;

EID: 0031844115     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000017956     Document Type: Article
Times cited : (13)

References (17)
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    • (1984) Arch Dermatol , vol.120 , pp. 1344-1346
    • Ishibashi, A.1    Tsuboi, R.2    Shinmei, M.3
  • 7
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    • Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis
    • Takiyama N, Itoh K, Shimmoto M, Nishimoto J, Inui K, Sakuraba H, Suzuki Y: Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis. Brain Dev 1977;19:126-130.
    • (1977) Brain Dev , vol.19 , pp. 126-130
    • Takiyama, N.1    Itoh, K.2    Shimmoto, M.3    Nishimoto, J.4    Inui, K.5    Sakuraba, H.6    Suzuki, Y.7
  • 8
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    • Galactosialidosis: Molecular heterogeneity in biosynthesis and processing of protective protein for beta-galactosidase
    • Nanba E, Tsuji A, Omura K, Suzuki Y: Galactosialidosis: Molecular heterogeneity in biosynthesis and processing of protective protein for beta-galactosidase. Hum Genet 1988;80: 329-332.
    • (1988) Hum Genet , vol.80 , pp. 329-332
    • Nanba, E.1    Tsuji, A.2    Omura, K.3    Suzuki, Y.4
  • 9
    • 0028158603 scopus 로고
    • The biochemistry and clinical features of galactosialidosis
    • Okamura-Oho Y, Zhang S, Callahan J: The biochemistry and clinical features of galactosialidosis. Biochim Biophys Acta 1994;1225:244-254.
    • (1994) Biochim Biophys Acta , vol.1225 , pp. 244-254
    • Okamura-Oho, Y.1    Zhang, S.2    Callahan, J.3
  • 11
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    • The presence of a reduced amount of 32-kD 'protective protein' is a distinct biochemical finding in late infantile galactosialidosis
    • Strisciuglio P, Parenti G, Giudice C, Lijoi S, Hoogeveen A, d'Azzo A: The presence of a reduced amount of 32-kD 'protective protein' is a distinct biochemical finding in late infantile galactosialidosis. Hum Genet 1988;80: 304-306.
    • (1988) Hum Genet , vol.80 , pp. 304-306
    • Strisciuglio, P.1    Parenti, G.2    Giudice, C.3    Lijoi, S.4    Hoogeveen, A.5    D'Azzo, A.6
  • 12
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    • Expression of cDNA encoding the human 'protective protein' associated with lysosomal β-galactosidase and neuramidase: Homology to yeast proteases
    • Galjart N, Gillemans N, Harris A, Horst G, Verheijen F, Galjaad H, d'Azzo A: Expression of cDNA encoding the human 'protective protein' associated with lysosomal β-galactosidase and neuramidase: Homology to yeast proteases. Cell 1988;54:755-764.
    • (1988) Cell , vol.54 , pp. 755-764
    • Galjart, N.1    Gillemans, N.2    Harris, A.3    Horst, G.4    Verheijen, F.5    Galjaad, H.6    D'Azzo, A.7
  • 17
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    • Molecular and biochemical analysis of protective protein/cathepsin A mutations: Correlation with clinical severity in galactosialidosis
    • Zhou X, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry G, Strisciuglio P, Andria G, d'Azzo A: Molecular and biochemical analysis of protective protein/cathepsin A mutations: Correlation with clinical severity in galactosialidosis. Hum Mol Genet 1996;5: 1977-1987.
    • (1996) Hum Mol Genet , vol.5 , pp. 1977-1987
    • Zhou, X.1    Van der Spoel, A.2    Rottier, R.3    Hale, G.4    Willemsen, R.5    Berry, G.6    Strisciuglio, P.7    Andria, G.8    D'Azzo, A.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.