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Trastornos neurológicos a consecuencia de la mutación del gen que codifica para fenilalanina hidroxilasa
| dc.contributor.author | Alvear Sedán, Ciro | spa |
| dc.contributor.author | Barboza Ubarnes, Miriam | spa |
| dc.contributor.author | Stave Salgado, Karen | spa |
| dc.date.accessioned | 2013-07-15 00:00:00 | |
| dc.date.available | 2013-07-15 00:00:00 | |
| dc.date.issued | 2013-07-15 | |
| dc.identifier.issn | 2215-7840 | |
| dc.identifier.uri | https://hdl.handle.net/11227/13004 | |
| dc.format.mimetype | application/pdf | spa |
| dc.language.iso | spa | spa |
| dc.publisher | Universidad de Cartagena | spa |
| dc.relation.ispartofjournal | Revista Ciencias Biomédicas | spa |
| dc.rights | Revista Ciencias Biomédicas - 2020 | spa |
| dc.rights.uri | https://creativecommons.org/licenses/by-nc-sa/4.0/ | spa |
| dc.source | https://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/view/2833 | spa |
| dc.subject | Fenilcetonuria | spa |
| dc.subject | Fenilalanina | spa |
| dc.subject | Mutación | spa |
| dc.subject | Fenilalanina hidroxilasa | spa |
| dc.subject | Trastornos neurológicos. | spa |
| dc.title | Trastornos neurológicos a consecuencia de la mutación del gen que codifica para fenilalanina hidroxilasa | spa |
| dc.type | Artículo de revista | spa |
| dc.title.translated | Trastornos neurológicos a consecuencia de la mutación del gen que codifica para fenilalanina hidroxilasa | eng |
| dc.identifier.doi | 10.32997/rcb-2013-2833 | |
| dc.type.version | info:eu-repo/semantics/publishedVersion | spa |
| dc.type.coarversion | http://purl.org/coar/version/c_970fb48d4fbd8a85 | spa |
| dc.rights.coar | http://purl.org/coar/access_right/c_abf2 | spa |
| dc.identifier.eissn | 2389-7252 | |
| dc.identifier.url | https://doi.org/10.32997/rcb-2013-2833 | |
| dc.relation.bitstream | https://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/download/2833/2378 | |
| dc.relation.citationedition | Núm. 2 , Año 2013 | spa |
| dc.relation.citationendpage | 344 | |
| dc.relation.citationissue | 2 | spa |
| dc.relation.citationstartpage | 339 | |
| dc.relation.citationvolume | 4 | spa |
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| dc.relation.references | De Groot MJ, Hoeksma M, Blau N, Reijngoud DJ, van Spronsen FJ. Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses. Mol Genet Metab. 2010;99:S86-S89. | spa |
| dc.relation.references | Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011;104:S2-S9. | spa |
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| dc.relation.references | Scriver CH. The PAH Gene, Phenylketonuria and A Paradigm Shift. Hum Mutat. 2007;28(9):831-845. | spa |
| dc.relation.references | Pelloc JM, Hrachovy R, Shinnar S,Borana TZ,Bettis D, Dlugas DJ, et al. Infantile spasms:a US consensus report .Epilepsia. 2010;51(10):2175-2189. | spa |
| dc.relation.references | Hoeksma M, Reijngoud DJ, Pruim J, de Valk H, Panns A, van Spronsen FJ. Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis. Mol Genet Metab. 2009;96(4):177-182. | spa |
| dc.relation.references | Demirkol M, Giżewska M, Giovannini M, Walter J. Follow up of phenylketonuria patients. Mol Genet Metab. 2011;104:S31–S39. | spa |
| dc.relation.references | Trefz FK, Belanger-Quintana A. Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria. Drugs Today. 2010; 46(8):589-600. | spa |
| dc.relation.references | Acosta P, Michals K. Nutrition management of patients with inherited disorders of aromatic amino acid metabolism. En: Acosta P. Nutrition Management of patients with inherited metabolic disorders, 1st edition, Sudbury MA: Jones and Bartlett Publisher; 2010. p. 119-74. | spa |
| dc.rights.accessrights | info:eu-repo/semantics/openAccess | spa |
| dc.type.coar | http://purl.org/coar/resource_type/c_6501 | spa |
| dc.type.content | Text | spa |
| dc.type.driver | info:eu-repo/semantics/article | spa |
| dc.type.local | Journal article | eng |
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| Ficheros | Tamaño | Formato | Ver |
|---|---|---|---|
| Rev Cienc Biomed-2833.pdf | 23.45Kb | application/pdf | Ver/ |
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