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Volumn 29, Issue 8, 2014, Pages

Hyperactivity, unexplained speech delay, and coarse facies - Is it Sanfilippo syndrome?

Author keywords

developmental delay; hyperactivity; mucopolysaccharidosis; Sanfilippo; speech delay

Indexed keywords

HEMOGLOBIN;

EID: 84904680918     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813491627     Document Type: Article
Times cited : (7)

References (9)
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    • Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
    • Valstar MJ, Bruggenwirth HT, Olmer R, et al. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis. 2010 ; 33: 759-767
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    • Valstar, M.J.1    Bruggenwirth, H.T.2    Olmer, R.3
  • 5
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    • Nelson, J.1    Crowhurst, J.2    Carey, B.3    Greed, L.4
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    • Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response
    • Killedar S, Dirosario J, Divers E, et al. Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response. J Neuroinflammation. 2010 ; 7: 39
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    • Killedar, S.1    Dirosario, J.2    Divers, E.3
  • 9
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    • Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice
    • Malinowska M, Wilkinson FL, Bennett W, et al. Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab. 2009 ; 98: 235-242
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    • Malinowska, M.1    Wilkinson, F.L.2    Bennett, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.