Birth weight in patients with mucopolysaccharidosis type II : data from the Hunter Outcome Survey (HOS)

dc.contributor.author	Bodamer, Olaf	pt_BR
dc.contributor.author	Scarpa, Maurizio	pt_BR
dc.contributor.author	Hung, Christina	pt_BR
dc.contributor.author	Pulles, Tom	pt_BR
dc.contributor.author	Giugliani, Roberto	pt_BR
dc.date.accessioned	2019-06-19T02:33:19Z	pt_BR
dc.date.issued	2017	pt_BR
dc.identifier.issn	2214-4269	pt_BR
dc.identifier.uri	http://hdl.handle.net/10183/195897	pt_BR
dc.description.abstract	There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter Outcome Survey (HOS). This analysis indicated that birth weight is not an early marker of MPS II and is not associated with disease severity. It remains important to investigate the utility of other factors for early/pre-symptomatic diagnosis.	en
dc.format.mimetype	application/pdf	pt_BR
dc.language.iso	eng	pt_BR
dc.relation.ispartof	Molecular genetics and metabolism reports. Amsterdam. vol. 11 (June 2017), p. 62-64.	pt_BR
dc.rights	Open Access	en
dc.subject	Growth	en
dc.subject	Peso ao nascer	pt_BR
dc.subject	Hunter syndrome	en
dc.subject	Mucopolissacaridose II	pt_BR
dc.subject	Lysosomal storage disease	en
dc.subject	Iduronate-2-sulfatase deficiency	en
dc.title	Birth weight in patients with mucopolysaccharidosis type II : data from the Hunter Outcome Survey (HOS)	pt_BR
dc.type	Artigo de periódico	pt_BR
dc.identifier.nrb	001089824	pt_BR
dc.type.origin	Estrangeiro	pt_BR

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