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Volumn 15, Issue 7, 2008, Pages

Late onset hexosaminidase A deficiency in a young adult

Author keywords

ALS; Hexosaminidase A deficiency

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

EID: 44949222399     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2008.02170.x     Document Type: Letter
Times cited : (6)

References (5)
  • 1
    • 0021835619 scopus 로고
    • Motor neuron disease and adult hexosaminidase a deficiency in two families: Evidence for multisystem degeneration
    • Mitsumoto H, Sliman RJ, Schafer IA, et al. Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Annals of Neurology 1985 17 : 378 385.
    • (1985) Annals of Neurology , vol.17 , pp. 378-385
    • Mitsumoto, H.1    Sliman, R.J.2    Schafer, I.A.3
  • 2
    • 0032850439 scopus 로고    scopus 로고
    • Biochemical consequences of mutations causing the GM2 gangliosidoses
    • Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochimica et Biophysica Acta 1999 1455 : 105 138.
    • (1999) Biochimica et Biophysica Acta , vol.1455 , pp. 105-138
    • Mahuran, D.J.1
  • 3
    • 34247859067 scopus 로고    scopus 로고
    • Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis
    • Epub 2007 Jan 21.
    • Maegawa GH, Tropak M, Buttner J, et al. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. Journal of Biological Chemistry 2007 282 : 9150 9161. Epub 2007 Jan 21.
    • (2007) Journal of Biological Chemistry , vol.282 , pp. 9150-9161
    • Maegawa, G.H.1    Tropak, M.2    Buttner, J.3
  • 5
    • 0023836298 scopus 로고
    • Hexosaminidase a activity and amyotrophic lateral sclerosis
    • Gudesblatt M, Ludman MD, Cohen JA, et al. Hexosaminidase a activity and amyotrophic lateral sclerosis. Muscle and Nerve 1988 11 : 3.
    • (1988) Muscle and Nerve , vol.11 , pp. 3
    • Gudesblatt, M.1    Ludman, M.D.2    Cohen, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.