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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

dc.contributor.authorGautschi, Matthias
dc.contributor.authorMayorandan, Sebene
dc.contributor.authorMeyer, Uta
dc.contributor.authorSegarra, Nuria Garcia
dc.contributor.authorde Baulny, Helene Ogier
dc.contributor.authorvan Spronsen, Francjan
dc.contributor.authorZeman, Jiri
dc.contributor.authorde laet, Corinne
dc.contributor.authorSpiekerkoetter, Ute
dc.contributor.authorThimm, Eva
dc.contributor.authorMaiorana, Arianna
dc.contributor.authorDionisi-Vici, Carlo
dc.contributor.authorMoeslinger, Dorothea
dc.contributor.authorBrunner-Krainz, Michaela
dc.contributor.authorLotz-Havla, Amelie Sophia
dc.contributor.authorde Juan, Jose Angel Cocho
dc.contributor.authorPico, Maria Luz Couce
dc.contributor.authorSanter, Rene
dc.contributor.authorScholl-Buergi, Sabine
dc.contributor.authorMandel, Hanna
dc.contributor.authorBliksrud, Yngve Thomas
dc.contributor.authorFreisinger, Peter
dc.contributor.authorAldamiz-Echevarria, Luis Jose
dc.contributor.authorHochuli, Michel
dc.contributor.authorEndig, Jessica
dc.contributor.authorJordan, Jens
dc.contributor.authorMcKiernan, Patrick
dc.contributor.authorErnst, Stefanie
dc.contributor.authorMorlot, Susanne
dc.contributor.authorVogel, Arndt
dc.contributor.authorSander, Johannes
dc.contributor.authorDas, Anibh Martin
dc.contributor.authorGokcay, Gülden Fatma
dc.date.accessioned2021-03-04T11:19:31Z
dc.date.available2021-03-04T11:19:31Z
dc.identifier.citationMayorandan S., Meyer U., Gokcay G. F. , Segarra N. G. , de Baulny H. O. , van Spronsen F., Zeman J., de laet C., Spiekerkoetter U., Thimm E., et al., "Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.", Orphanet journal of rare diseases, cilt.9, ss.107, 2014
dc.identifier.issn1750-1172
dc.identifier.othervv_1032021
dc.identifier.otherav_71c9f876-8f95-4c0e-b671-60a686d0cddb
dc.identifier.urihttp://hdl.handle.net/20.500.12627/78340
dc.identifier.urihttps://doi.org/10.1186/s13023-014-0107-7
dc.description.abstractBackground: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data.
dc.language.isoeng
dc.subjectKlinik Tıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.titleCross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
dc.typeMakale
dc.relation.journalOrphanet journal of rare diseases
dc.contributor.departmentHannover Medical School , ,
dc.identifier.volume9
dc.identifier.startpage107
dc.identifier.endpage107
dc.contributor.firstauthorID216083


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