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Volumn 41, Issue 3, 2004, Pages 260-265

Lysosomal Storage Disorders

Author keywords

GM2 gangliosidosis; Lysosomal enzyme; Lysosomal storage disorders (LSDs); Metachromatic leukodystrophy (MLD)

Indexed keywords

CEREBROSIDE SULFATASE; LEUKOCYTE ENZYME;

EID: 1642358185     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (14)
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    • Variable clinical presentation in lysosomal storage disorders
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    • Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexaminidase assay
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    • O' Brine, J.S.1    Okada, S.2    Chen, A.3    Fillerup, D.L.4
  • 8
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    • Quantitative correlation between the residual activity of b - hexosaminidase A and arylsulfatase - A and the severity of the resulting lysosomal storage disease
    • Leinekugel P, Michel S, Conzelmann E, Sandhoff K. Quantitative correlation between the residual activity of b - hexosaminidase A and arylsulfatase - A and the severity of the resulting lysosomal storage disease. Hum Genet 1992; 88: 513-523.
    • (1992) Hum Genet , vol.88 , pp. 513-523
    • Leinekugel, P.1    Michel, S.2    Conzelmann, E.3    Sandhoff, K.4
  • 9
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    • The human GM2 activator protein. A substrate specific cofactor b - hexosaminidase A
    • Meier Em, Schwarzmmann W, Furst W Sandhoff K. The human GM2 activator protein. A substrate specific cofactor b - hexosaminidase A. J Biol Chem 1991; 266: 1879-1887.
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    • Meier, Em.1    Schwarzmmann, W.2    Furst, W.3    Sandhoff, K.4
  • 10
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    • Metachromatic leukodystrophy: A newly identified mutation in arylsulphatase A, DI8IY, found as a compound heterozygote with I 179L in an adult onset case
    • Halsall DJ, Halligan EP, Elsey TS, Cox TM. Metachromatic leukodystrophy: a newly identified mutation in arylsulphatase A, DI8IY, found as a compound heterozygote with I 179L in an adult onset case. Hum Mutat 1999; 14: 447-450.
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    • Halsall, D.J.1    Halligan, E.P.2    Elsey, T.S.3    Cox, T.M.4
  • 11
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    • Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population
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  • 12
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    • Characterization of beta-galactosidase in leukocytes and fibroblasts of Gm1 gangliosidosis heterozygotes compared to normal subjects
    • Sopelsa AM, Severini MH, Da Silva CM, Tabo PR, Giugliani R, Coelho JC. Characterization of beta-galactosidase in leukocytes and fibroblasts of Gm1 gangliosidosis heterozygotes compared to normal subjects. Clin Biochem 2000; 33: 125-129.
    • (2000) Clin Biochem , vol.33 , pp. 125-129
    • Sopelsa, A.M.1    Severini, M.H.2    Da Silva, C.M.3    Tabo, P.R.4    Giugliani, R.5    Coelho, J.C.6
  • 13
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    • Prenatal Diagnosis of Tay-Sach B1 variant in a Maharashtrian family
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    • Sheth, J.1    Bhattacharya, R.2    Sheth, F.3
  • 14
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    • Morquio-B syndrome (MPS-IVB) associated with B-Galactosidase Deficiency in two siblings
    • Sheth J, Sheth F, Bhattacharya R. Morquio-B syndrome (MPS-IVB) associated with B-Galactosidase Deficiency in two siblings. Indian J Pediatr 2002; 69: 109-111.
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    • Sheth, J.1    Sheth, F.2    Bhattacharya, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.