Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

dc.contributor.author	Couce Pico, María Luz
dc.contributor.author	Bóveda Fontán, María Dolores
dc.contributor.author	Fraga Bermúdez, José María
dc.contributor.author	Mirás Veiga, Alicia
dc.contributor.author	Fernández Marmiesse, Ana
dc.date.accessioned	2017-06-07T07:02:33Z
dc.date.available	2017-06-07T07:02:33Z
dc.date.issued	2013
dc.identifier.issn	0378-1119
dc.identifier.uri	http://hdl.handle.net/20.500.11940/1965
dc.language.iso	eng
dc.title	Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain
dc.type	Artigo	es
dc.authorsophos	Couce, M. L.
dc.authorsophos	Bóveda, M. D.
dc.authorsophos	Fernández-Marmiesse, A.
dc.authorsophos	Mirás, A.
dc.authorsophos	Pérez, B.
dc.authorsophos	Desviat, L. R.
dc.authorsophos	Fraga, J. M.
dc.identifier.doi	10.1016/j.gene.2013.03.004
dc.identifier.isi	319032500015
dc.identifier.pmid	23500595
dc.identifier.sophos	12465
dc.issue.number	1
dc.journal.title	GENE
dc.organization	Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Pediatría
dc.page.initial	100
dc.page.final	4
dc.rights.accessRights	openAccess
dc.typesophos	Artículo Original
dc.volume.number	521

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