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Volumn 163, Issue 4-5, 2004, Pages 214-217

Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl

Author keywords

Autosomal recessive connective tissue disorder; Ehlers Danlos syndrome type VI; Kyphoscoliosis; Lysylhydroxylase; Meningeal cysts

Indexed keywords

PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; PYRIDINOLINE;

EID: 2442672684     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1407-z     Document Type: Article
Times cited : (15)

References (18)
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    • Açil Y, Vetter U, Brenner R, Müller PK, Brinckmann J (1995) Diagnosis of Ehlers-Danlos syndrome type VI: cross-link pattern in tissue and urine sample as a diagnostic marker. J Am Acad Dermatol 33: 522-524
    • (1995) J Am Acad Dermatol , vol.33 , pp. 522-524
    • Açil, Y.1    Vetter, U.2    Brenner, R.3    Müller, P.K.4    Brinckmann, J.5
  • 9
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    • Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen
    • Krane SM, Pinell SR, Erbe RW (1972) Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen Proc Natl Acad Sci USA 69: 2899-2903
    • (1972) Proc Natl Acad Sci USA , vol.69 , pp. 2899-2903
    • Krane, S.M.1    Pinell, S.R.2    Erbe, R.W.3
  • 10
    • 0028272120 scopus 로고
    • Urinary pyridinium cross-links: A noninvasive diagnostic test for EDS type VI
    • Pasquali M, Dembure PP, Still MJ, Elsas LJ (1994) Urinary pyridinium cross-links: a noninvasive diagnostic test for EDS type VI. N Engl J Med 331: 132-133
    • (1994) N Engl J Med , vol.331 , pp. 132-133
    • Pasquali, M.1    Dembure, P.P.2    Still, M.J.3    Elsas, L.J.4
  • 11
    • 0015502702 scopus 로고
    • A heritable disorder of connective tissue: Hydroxylysine deficient collagen disease
    • Pinnell SR, Krane SM, Kenzora JE, Glimcher MJ (1972) A heritable disorder of connective tissue: hydroxylysine deficient collagen disease. N Engl J Med 286: 1013-1020
    • (1972) N Engl J Med , vol.286 , pp. 1013-1020
    • Pinnell, S.R.1    Krane, S.M.2    Kenzora, J.E.3    Glimcher, M.J.4
  • 14
    • 0028841268 scopus 로고
    • Urinary pyridinoline cross-links in EDS type VI
    • Steinmann B, Eyre DR, Shao P (1995) Urinary pyridinoline cross-links in EDS type VI. Am J Hum Genet 57: 1505-1508
    • (1995) Am J Hum Genet , vol.57 , pp. 1505-1508
    • Steinmann, B.1    Eyre, D.R.2    Shao, P.3
  • 17
    • 0024426610 scopus 로고
    • EDS type VI: Clinical manifestation of collagen lysylhydroxylase deficiency
    • Wenstrup RJ, Murad S, Pinnel SR (1989) EDS type VI: clinical manifestation of collagen lysylhydroxylase deficiency. J Pediatr 115: 405-409
    • (1989) J Pediatr , vol.115 , pp. 405-409
    • Wenstrup, R.J.1    Murad, S.2    Pinnel, S.R.3
  • 18
    • 0033812976 scopus 로고    scopus 로고
    • Mutations in the lysylhydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of EDS type V1
    • Yeowell HN, Walker LC (2000) Mutations in the lysylhydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of EDS type V1. Mol Genet Metabol 71: 212-224
    • (2000) Mol Genet Metabol , vol.71 , pp. 212-224
    • Yeowell, H.N.1    Walker, L.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.