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J. B. Eisengart et al.
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Jitka Rybova et al.
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Orna Staretz-Chacham et al.
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Carlos Eduardo Diaz Jacques et al.
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Mylinh Vu et al.
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Francis Aguisanda et al.
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Mykhaylo Demydchuk et al.
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Sheng Dai et al.
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Joseph Muenzer et al.
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Eszter Varga et al.
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Yan Long et al.
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Sandra Motas et al.
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Massimo Tatti et al.
HUMAN MOLECULAR GENETICS (2015)
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome
Jaime Dalmau Serra et al.
MEDICINA CLINICA (2015)
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Daozhan Yu et al.
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T. G. Ramsay et al.
ANIMAL (2013)
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Charles C. Pontikis et al.
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Jessica H. Bagel et al.
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Joseph Muenzer et al.
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Miao Xu et al.
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Vinicia Assunta Polito et al.
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Steven U. Walkley et al.
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Cristin D. Davidson et al.
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Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis
K. Sukegawa-Hayasaka et al.
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Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery
M Cardone et al.
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Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
R McGlynn et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2004)
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