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Volumn 1502, Issue 3, 2000, Pages 415-425

Mucopolysaccharidosis type IIIB: Characterisation and expression of wild-type and mutant recombinant α-N-acetylglucosaminidase and relationship with Sanfilippo phenotype in an attenuated patient

Author keywords

N acetylglucosaminidase; Lysosome; Mucopolysaccharidosis; Sanfilippo

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE; COMPLEMENTARY DNA; LYSOSOME ENZYME;

EID: 0034670152     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(00)00066-1     Document Type: Article
Times cited : (26)

References (22)
  • 2
    • 0007685309 scopus 로고    scopus 로고
    • E.F. Neufeld, J. Muenzer, The mucopolysaccharidoses, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic Bases of Inherited Disease, 7th ed., McGraw-Hill, New York, 1995, pp. 2465-2494.
  • 17
    • 0021958406 scopus 로고
    • 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease
    • (1985) Clin. Genet. , vol.27 , pp. 258-562
    • Marsh, J.1    Fensom, A.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.