메뉴 건너뛰기




Volumn 18, Issue 2, 1996, Pages 153-156

A Japanese case of infantile sialic acid storage disease

Author keywords

Free sialic acid; Infantile sialic acid storage disease; Lysosomal storage disorder; MRI

Indexed keywords

SIALIC ACID;

EID: 0029968258     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/0387-7604(95)00142-5     Document Type: Article
Times cited : (8)

References (15)
  • 1
    • 0025867020 scopus 로고
    • Sialic acid metabolism in sialuria fibroblasts
    • Seppala R, Tietze F, Krasnewich D, et al. Sialic acid metabolism in sialuria fibroblasts. J Biol Chem 1991; 266: 7456-61.
    • (1991) J Biol Chem , vol.266 , pp. 7456-7461
    • Seppala, R.1    Tietze, F.2    Krasnewich, D.3
  • 2
    • 0022456165 scopus 로고
    • Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease
    • Renlund M, Tietze F, Gahl WA. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Science 1986; 232: 759-62.
    • (1986) Science , vol.232 , pp. 759-762
    • Renlund, M.1    Tietze, F.2    Gahl, W.A.3
  • 3
    • 0024438743 scopus 로고
    • Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease
    • Tietze F, Seppala R, Renlund M, et al. Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. J Biol Chem 1989; 264: 15316-22.
    • (1989) J Biol Chem , vol.264 , pp. 15316-15322
    • Tietze, F.1    Seppala, R.2    Renlund, M.3
  • 4
    • 0020601328 scopus 로고
    • Sialic acid storage disease with sialuria: Clinical and biochemical features in the severe infantile type
    • Stevenson RE, Lubinsky M, Taylor HA, Wenger DA, Schroer RJ, Olmstead PM. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Pediatrics 1983; 72: 441-9.
    • (1983) Pediatrics , vol.72 , pp. 441-449
    • Stevenson, R.E.1    Lubinsky, M.2    Taylor, H.A.3    Wenger, D.A.4    Schroer, R.J.5    Olmstead, P.M.6
  • 5
    • 0020458986 scopus 로고
    • Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings
    • Tondeur M, Libert J, Vamos E, van Hoof F, Thomas GH, Strecker G. Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. Eur J Pediatr 1982; 139: 142-7.
    • (1982) Eur J Pediatr , vol.139 , pp. 142-147
    • Tondeur, M.1    Libert, J.2    Vamos, E.3    Van Hoof, F.4    Thomas, G.H.5    Strecker, G.6
  • 6
    • 0020025695 scopus 로고
    • Generalized N-acetylneuraminic acid storage disease: Quantitation and identification of the monosaccharide accumulating in brain and other tissues
    • Hancock LW, Thaler MM, Horwitz AL, Dawson G. Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues. J Neurochem 1982; 38: 803-9.
    • (1982) J Neurochem , vol.38 , pp. 803-809
    • Hancock, L.W.1    Thaler, M.M.2    Horwitz, A.L.3    Dawson, G.4
  • 8
    • 0023902216 scopus 로고
    • Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families
    • Clements PR, Taylor JA, Hopwood JJ. Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families. J Inher Metab Dis 1988; 11: 30-44.
    • (1988) J Inher Metab Dis , vol.11 , pp. 30-44
    • Clements, P.R.1    Taylor, J.A.2    Hopwood, J.J.3
  • 10
    • 0023735460 scopus 로고
    • Infantile sialic acid storage disease associated with renal disease
    • Pueschel SM, O'Shea PA, Alroy J, et al. Infantile sialic acid storage disease associated with renal disease. Pediatr Neurol 1988; 4: 207-12.
    • (1988) Pediatr Neurol , vol.4 , pp. 207-212
    • Pueschel, S.M.1    O'Shea, P.A.2    Alroy, J.3
  • 11
    • 0024354751 scopus 로고
    • Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy
    • Lake BD, Young EP, Nicolaides K. Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy. J Inher Metab Dis 1989; 12: 152-6.
    • (1989) J Inher Metab Dis , vol.12 , pp. 152-156
    • Lake, B.D.1    Young, E.P.2    Nicolaides, K.3
  • 12
    • 0025230924 scopus 로고
    • Nephrosis in two siblings with infantile sialic acid storage disease
    • Sperl W, Gruber W, Quatacker J, et al. Nephrosis in two siblings with infantile sialic acid storage disease. Eur J Pediatr 1990; 149: 477-82.
    • (1990) Eur J Pediatr , vol.149 , pp. 477-482
    • Sperl, W.1    Gruber, W.2    Quatacker, J.3
  • 14
    • 73049171244 scopus 로고
    • Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialomucoids
    • Aminoff D. Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialomucoids. Biochem J 1961; 81: 384-92.
    • (1961) Biochem J , vol.81 , pp. 384-392
    • Aminoff, D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.