Liver transplantation in pediatric monogenic metabolic diseases
dc.contributor.author | Varol, Fatma Ilknur | |
dc.date.accessioned | 2024-08-04T20:10:23Z | |
dc.date.available | 2024-08-04T20:10:23Z | |
dc.date.issued | 2023 | |
dc.department | İnönü Üniversitesi | en_US |
dc.description.abstract | Monogenic diseases are the results of a single gene mutation leading to alterations or defects in a single enzyme causing severe metabolic derangements causing multi -systemic systemic disease and even death Current management strategies include diet to reduce the accumulation of metabolic waste products and treatment to increase the excretion of the toxic metabolites and to induce the activity of the mutant enzyme. However, liver transplantation the only therapeutic strategy that offers a chance of cure to children with certain genetic diseases. | en_US |
dc.identifier.doi | 10.59213/TP.2023.36025 | |
dc.identifier.endpage | 237 | en_US |
dc.identifier.issn | 2718-0085 | |
dc.identifier.issn | 2792-0429 | |
dc.identifier.issue | 4 | en_US |
dc.identifier.scopus | 2-s2.0-85181718146 | en_US |
dc.identifier.scopusquality | N/A | en_US |
dc.identifier.startpage | 227 | en_US |
dc.identifier.trdizinid | 1238940 | en_US |
dc.identifier.uri | https://doi.org/10.59213/TP.2023.36025 | |
dc.identifier.uri | https://search.trdizin.gov.tr/yayin/detay/1238940 | |
dc.identifier.uri | https://hdl.handle.net/11616/92759 | |
dc.identifier.volume | 4 | en_US |
dc.identifier.wos | WOS:001222804600003 | en_US |
dc.identifier.wosquality | N/A | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | TR-Dizin | en_US |
dc.language.iso | en | en_US |
dc.publisher | Galenos Publ House | en_US |
dc.relation.ispartof | Trends in Pediatrics | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Liver transplantation | en_US |
dc.subject | pediatric liver diseases | en_US |
dc.subject | pediatric monogenic diseases | en_US |
dc.title | Liver transplantation in pediatric monogenic metabolic diseases | en_US |
dc.type | Article | en_US |