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Volumn 38, Issue 1, 1996, Pages 85-89

Galactosialidosis in two siblings

Author keywords

Neurominidase; Galactosialidosis, Galactosidase; Lysosomal storage disease

Indexed keywords

SIALIC ACID DERIVATIVE; SIALIDASE; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 0029681627     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (8)
  • 1
    • 0015120830 scopus 로고
    • Macular cherry-red spot, corneal clouding and β-galactosidase deficiency: Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease
    • Goldberg MF, Collier E, Fichenscher LG, Kenyon K, Enat R, Borowsky SA. Macular cherry-red spot, corneal clouding and β-galactosidase deficiency: clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease Arch Intern Med 1971; 128: 387-397.
    • (1971) Arch Intern Med , vol.128 , pp. 387-397
    • Goldberg, M.F.1    Collier, E.2    Fichenscher, L.G.3    Kenyon, K.4    Enat, R.5    Borowsky, S.A.6
  • 2
    • 0028158603 scopus 로고
    • The biochemistry and clinical features of galactosialidosis
    • Okamura-Oho Y, Zhang S, Callahan JW. The biochemistry and clinical features of galactosialidosis. Biochem Biophy Acta 1994; 1225: 244-254.
    • (1994) Biochem Biophy Acta , vol.1225 , pp. 244-254
    • Okamura-Oho, Y.1    Zhang, S.2    Callahan, J.W.3
  • 5
    • 0026710106 scopus 로고
    • An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis
    • Say B, Hommesa FA, Malik SA, Carpenter NJ. An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis. J Med Genet 1992; 29: 423-424.
    • (1992) J Med Genet , vol.29 , pp. 423-424
    • Say, B.1    Hommesa, F.A.2    Malik, S.A.3    Carpenter, N.J.4
  • 7
    • 0024801403 scopus 로고
    • Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis
    • Miyashita K, Miyatani N, Yoshino H, Tsuji S, Miyatake T. Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis. Clin Neurol 1989; 29: 1244-1250.
    • (1989) Clin Neurol , vol.29 , pp. 1244-1250
    • Miyashita, K.1    Miyatani, N.2    Yoshino, H.3    Tsuji, S.4    Miyatake, T.5
  • 8
    • 0021968285 scopus 로고
    • Cardiac involvement in diseases characterized by β-galactosidase deficiency
    • Rosenberg H, Frewen TC, LI MD, et al. Cardiac involvement in diseases characterized by β-galactosidase deficiency. J Pediatr 1985; 106: 78-80.
    • (1985) J Pediatr , vol.106 , pp. 78-80
    • Rosenberg, H.1    Frewen, T.C.2    Li, M.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.