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Volumn 3, Issue 1, 2010, Pages 71-75

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series

Author keywords

Adult; Case reports; Diagnosis; Mucopolysaccharidosis VI; Slowly progressive

Indexed keywords

GLYCOSAMINOGLYCAN;

EID: 77953419306     PISSN: 18745393     EISSN: 18758894     Source Type: Journal    
DOI: 10.3233/PRM-2010-0104     Document Type: Article
Times cited : (22)

References (10)
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  • 4
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    • Management guidelines for mucopolysaccharidosis VI
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    • Giugliani, R.1    Harmatz, P.2    Wraith, J.E.3
  • 6
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    • Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
    • T. Litjens, D.A. Brooks, C. Peters, G.J. Gibson and J.J. Hopwood, Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients, Am J Hum Genet 58 (1996), 1127-1134.
    • (1996) Am J Hum Genet , vol.58 , pp. 1127-1134
    • Litjens, T.1    Brooks, D.A.2    Peters, C.3    Gibson, G.J.4    Hopwood, J.J.5
  • 7
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    • Mucopolysaccharidoses in the Scandinavian countries: Incidence and prevalence
    • G. Malm, A.M. Lund, J.E. Månsson and A. Heiberg, Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence, Acta Paediatr 97 (2008), 1577-1581.
    • (2008) Acta Paediatr , vol.97 , pp. 1577-1581
    • Malm, G.1    Lund, A.M.2    Månsson, J.E.3    Heiberg, A.4
  • 8
    • 77953437599 scopus 로고    scopus 로고
    • Pseudo-deficiency allele of the Nacetylgalactosamine- 4-sulfatase gene identified in a family with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)
    • (abs. 79)
    • S. Sandberg, M. Deanching, G. Hoganson, D. Wenger and C. Whitley, Pseudo-deficiency allele of the Nacetylgalactosamine- 4-sulfatase gene identified in a family with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI), Mol Genet Metab 93 (2008), S34 (abs. 79).
    • (2008) Mol Genet Metab , vol.93
    • Sandberg, S.1    Deanching, M.2    Hoganson, G.3    Wenger, D.4    Whitley, C.5
  • 9
    • 0032233470 scopus 로고    scopus 로고
    • Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis
    • G.R.D. Villani, N. Balzano and P. Di Natale, Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis, Hum Mutat 11 (1997), 410.
    • (1997) Hum Mutat , vol.11 , pp. 410
    • Villani, G.R.D.1    Balzano, N.2    Di Natale, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.