Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/35488
Campo DC Valoridioma
dc.contributor.authorPeña Quintana, Luisen_US
dc.contributor.authorScherer, G.en_US
dc.contributor.authorCurbelo-Estévez, M. L.en_US
dc.contributor.authorJimenez Acosta, Franciscoen_US
dc.contributor.authorHartmann, B.en_US
dc.contributor.authorLa Roche, F.en_US
dc.contributor.authorMeavilla-Olivas, S.en_US
dc.contributor.authorPérez-Cerdá, C.en_US
dc.contributor.authorGarcía-Segarra, N.en_US
dc.contributor.authorGiguere, Y.en_US
dc.contributor.authorHuppke, P.en_US
dc.contributor.authorMitchell, G. A.en_US
dc.contributor.authorMoench, E.en_US
dc.contributor.authorTrump, D.en_US
dc.contributor.authorVianey-Saban, C.en_US
dc.contributor.authorTrimble, E. R.en_US
dc.contributor.authorVitoria-Minana, I.en_US
dc.contributor.authorReyes Suárez, D.en_US
dc.contributor.authorRamírez Lorenzo, Mª Teresaen_US
dc.contributor.authorTugores, Antonioen_US
dc.date.accessioned2018-04-25T09:20:22Z-
dc.date.available2018-04-25T09:20:22Z-
dc.date.issued2017en_US
dc.identifier.issn0009-9163en_US
dc.identifier.urihttp://hdl.handle.net/10553/35488-
dc.description.abstractBackground: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. Aims: To update disease-causing mutations and current clinical knowledge of the disease. Materials and Methods: Genetic and clinical information were obtained from a collection of both unreported and previously reported cases. Results: We report 106 families, represented by 143 individuals, carrying a total of 36 genetic variants, 11 of them not previously known to be associated with the disease. Variants include 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants. We also report 5 patients from Gran Canaria, representing the largest known group of unrelated families sharing the same P406L mutation. Conclusions: Data analysis did not reveal a genotype-phenotype correlation, but stressed the need of early diagnosis: All patients improved the oculocutaneous lesions after dietary treat- ment but neurological symptoms prevailed. The discovery of founder mutations in isolated populations, and the benefits of early intervention, should increase diagnostic awareness in newborns.en_US
dc.languageengen_US
dc.relation.ispartofClinical geneticsen_US
dc.sourceClinical Genetics [ISSN 0009-9163], v. 92 (3), p. 306-317en_US
dc.subject32 Ciencias médicasen_US
dc.subject320102 Genética clínicaen_US
dc.subject.otherGeneticsen_US
dc.subject.otherRichner-Hanharten_US
dc.subject.otherTATen_US
dc.subject.otherTyrosinemiaen_US
dc.titleTyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutationen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1111/cge.13003en_US
dc.identifier.scopus85019958079-
dc.identifier.isi000407911700009-
dc.contributor.authorscopusid6603266503-
dc.contributor.authorscopusid7201712603-
dc.contributor.authorscopusid57194383772-
dc.contributor.authorscopusid6603578663-
dc.contributor.authorscopusid7201381267-
dc.contributor.authorscopusid8691491700-
dc.contributor.authorscopusid57194378065-
dc.contributor.authorscopusid6603860348-
dc.contributor.authorscopusid55308175200-
dc.contributor.authorscopusid6603308846-
dc.contributor.authorscopusid6602707244-
dc.contributor.authorscopusid7403103963-
dc.contributor.authorscopusid7004072183-
dc.contributor.authorscopusid7101825162-
dc.contributor.authorscopusid57214015131-
dc.contributor.authorscopusid7003631373-
dc.contributor.authorscopusid57190720285-
dc.contributor.authorscopusid6701451604-
dc.contributor.authorscopusid6508220021-
dc.contributor.authorscopusid57191876570-
dc.contributor.authorscopusid6701671839-
dc.identifier.eissn1399-0004-
dc.description.lastpage317en_US
dc.identifier.issue3-
dc.description.firstpage306en_US
dc.relation.volume92en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.contributor.daisngid1012004-
dc.contributor.daisngid428393-
dc.contributor.daisngid17216052-
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dc.contributor.daisngid1234299-
dc.utils.revisionen_US
dc.contributor.wosstandardWOS:Pena-Quintana, L-
dc.contributor.wosstandardWOS:Scherer, G-
dc.contributor.wosstandardWOS:Curbelo-Estevez, ML-
dc.contributor.wosstandardWOS:Jimenez-Acosta, F-
dc.contributor.wosstandardWOS:Hartmann, B-
dc.contributor.wosstandardWOS:La Roche, F-
dc.contributor.wosstandardWOS:Meavilla-Olivas, S-
dc.contributor.wosstandardWOS:Perez-Cerda, C-
dc.contributor.wosstandardWOS:Garcia-Segarra, N-
dc.contributor.wosstandardWOS:Giguere, Y-
dc.contributor.wosstandardWOS:Huppke, P-
dc.contributor.wosstandardWOS:Mitchell, GA-
dc.contributor.wosstandardWOS:Monch, E-
dc.contributor.wosstandardWOS:Trump, D-
dc.contributor.wosstandardWOS:Vianey-Saban, C-
dc.contributor.wosstandardWOS:Trimble, ER-
dc.contributor.wosstandardWOS:Vitoria-Minana, I-
dc.contributor.wosstandardWOS:Reyes-Suarez, D-
dc.contributor.wosstandardWOS:Ramirez-Lorenzo, T-
dc.contributor.wosstandardWOS:Tugores, A-
dc.date.coverdateSeptiembre 2017en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr1,522
dc.description.jcr3,512
dc.description.sjrqQ2
dc.description.jcrqQ2
dc.description.scieSCIE
item.fulltextSin texto completo-
item.grantfulltextnone-
crisitem.author.deptGIR IUIBS: Nutrición-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Clínicas-
crisitem.author.deptGIR IUIBS: Patología médica-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptGIR IUIBS: Nutrición-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Clínicas-
crisitem.author.deptGIR IUIBS: Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.orcid0000-0001-6052-5894-
crisitem.author.orcid0000-0002-3644-3706-
crisitem.author.orcid0000-0002-1849-9239-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNamePeña Quintana, Luis-
crisitem.author.fullNameJimenez Acosta,Francisco-
crisitem.author.fullNameReyes Suárez, Desiderio Zacarías-
crisitem.author.fullNameTugores Céster,Antonio-
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