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dc.contributor | Universitat de Barcelona |
---|---|
dc.contributor.author | Vives i Corrons, Joan Lluís |
dc.contributor.author | Koralkova, Pavla |
dc.contributor.author | Grau Junyent, Josep M. (Josep Maria) |
dc.contributor.author | Mañú Pereira, María del Mar |
dc.contributor.author | Wijk, Richard van |
dc.date | 2019-08-02T14:42:54Z |
dc.date | 2019-08-02T14:42:54Z |
dc.date | 2013-12-30 |
dc.date | 2019-08-02T14:42:55Z |
dc.identifier.citation | 1664-042X |
dc.identifier.citation | 633200 |
dc.identifier.uri | http://hdl.handle.net/2445/138697 |
dc.format | 6 p. |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation | Reproducció del document publicat a: https://doi.org/10.3389/fphys.2013.00393 |
dc.relation | Frontiers in Physiology, 2013, vol. 4 |
dc.relation | https://doi.org/10.3389/fphys.2013.00393 |
dc.rights | cc-by (c) Vives i Corrons, Joan Lluís et al., 2013 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.rights | http://creativecommons.org/licenses/by/3.0/es |
dc.subject | Errors congènits del metabolisme |
dc.subject | Malalties hereditàries |
dc.subject | Inborn errors of metabolism |
dc.subject | Genetic diseases |
dc.title | First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |
dc.description.abstract |