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Volumn 136, Issue 4, 1997, Pages 594-597

Cutaneous manifestations of fucosidosis

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; DYSOSTOSIS; ELECTRON MICROSCOPY; FABRY DISEASE; FUCOSIDOSIS; HISTOLOGY; HUMAN; HYPERHIDROSIS; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SKIN BIOPSY;

EID: 0030942765     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.1997.tb02149.x     Document Type: Article
Times cited : (25)

References (16)
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  • 2
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    • Van Hoof, F.1    Hers, H.G.2
  • 4
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    • Fucosidosis revisited: A review of 77 patients
    • Willems PJ, Gatti R, Darby JK et al. Fucosidosis revisited: a review of 77 patients. Am J Med Genet 1991; 38: 111-31.
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    • Willems, P.J.1    Gatti, R.2    Darby, J.K.3
  • 5
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    • Fucosidosis
    • Gomez MR, ed.. Butterworths
    • Philippart, M. Fucosidosis. In: Neurocutaneous Diseases (Gomez MR, ed.). Butterworths, 1987; 143-54.
    • (1987) Neurocutaneous Diseases , pp. 143-154
    • Philippart, M.1
  • 7
    • 0028097391 scopus 로고
    • Angiokeratoma corporis diffusum in fucosidosis
    • George S, Graham-Brown R. Angiokeratoma corporis diffusum in fucosidosis. J R Soc Med 1994; 87: 707.
    • (1994) J R Soc Med , vol.87 , pp. 707
    • George, S.1    Graham-Brown, R.2
  • 8
    • 0019183301 scopus 로고
    • Two patients with an unusual form of type 2 fucosidosis
    • Schoonderwaldt HC. Two patients with an unusual form of type 2 fucosidosis. Clin Genet 1980; 18: 348-54.
    • (1980) Clin Genet , vol.18 , pp. 348-354
    • Schoonderwaldt, H.C.1
  • 9
    • 0030040534 scopus 로고    scopus 로고
    • The clinical spectrum of naevus anaemicus and its association with port wine stains: Report of 15 cases and a review of the literature
    • Katugampola GA, Lanigan SW. The clinical spectrum of naevus anaemicus and its association with port wine stains: report of 15 cases and a review of the literature. Br J Dermatol 1996; 134: 292-5.
    • (1996) Br J Dermatol , vol.134 , pp. 292-295
    • Katugampola, G.A.1    Lanigan, S.W.2
  • 11
    • 0026529803 scopus 로고
    • Structure and sequence of the human alpha-L-fucosidase gene and pseudogene
    • Kretz KA, Cripe D, Carson GS. Structure and sequence of the human alpha-L-fucosidase gene and pseudogene. Genomics 1992; 12: 276-80.
    • (1992) Genomics , vol.12 , pp. 276-280
    • Kretz, K.A.1    Cripe, D.2    Carson, G.S.3
  • 12
    • 0027395031 scopus 로고
    • Fucosidosis: Four new mutations and a new polymorphism
    • Seo HC, Willems PJ, Kretz KA et al. Fucosidosis: four new mutations and a new polymorphism. Hum Mol Genet 1993; 2: 423-9.
    • (1993) Hum Mol Genet , vol.2 , pp. 423-429
    • Seo, H.C.1    Willems, P.J.2    Kretz, K.A.3
  • 13
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    • Six additional mutations in fucosidosis: Three nonsense mutations and three frameshift mutations
    • Seo HC, Willems PJ, O'Brien JS. Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations. Hum Mol Genet 1993; 2: 1205-8.
    • (1993) Hum Mol Genet , vol.2 , pp. 1205-1208
    • Seo, H.C.1    Willems, P.J.2    O'Brien, J.S.3
  • 14
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    • Prenatal diagnosis of fucosidosis
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  • 15
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    • Amelioration of clinical disease following bone marrow transplantation in fucosidase-deficient dogs
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    • Taylor, R.M.1    Farrow, B.R.2    Stewart, G.J.3
  • 16
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    • (1995) Bone Marrow Transplant , vol.15 , pp. 153-158
    • Vellodi, A.1    Cragg, H.2    Winchester, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.