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dc.contributor.authorSuttiruk Jitraruchen_US
dc.contributor.authorSuporn Treepongkarunaen_US
dc.contributor.authorSumate Teeraratkulen_US
dc.contributor.authorDuangrurdee Wattanasirichaigoonen_US
dc.contributor.authorSurasak Leelaudomlipien_US
dc.contributor.authorPattana Sornmayuraen_US
dc.contributor.authorSomchai Viengteerawaten_US
dc.contributor.authorSuthus Sriphojanarten_US
dc.contributor.otherMahidol Universityen_US
dc.date.accessioned2018-05-03T08:24:28Z-
dc.date.available2018-05-03T08:24:28Z-
dc.date.issued2011-10-01en_US
dc.identifier.citationJournal of the Medical Association of Thailand. Vol.94, No.10 (2011), 1276-1280en_US
dc.identifier.issn01252208en_US
dc.identifier.other2-s2.0-84855566151en_US
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84855566151&origin=inwarden_US
dc.identifier.urihttp://repository.li.mahidol.ac.th/dspace/handle/123456789/12270-
dc.description.abstractHereditary tyrosinemia type I (HT-I) is an autosomal recessive inborn error of tyrosine metabolism, caused by mutation(s) in the gene encoding for fumarylacetoacetate hydrolase (FAH) enzyme. The authors report a Thai boy who presented at two months of age with liver failure. HT-I was diagnosed based on the presence of succinylacetone in urine and homozygous R237X mutations of FAH gene. He was started on tyrosine and phenylalanine restricted diet immediately. Due to a limitation of 2-(2-nitro-4-trifluoromethyl benzoyl)-1, 3-cyclohexanedione (NTBC) therapy in Thailand, it was commenced at eight months old and used as a bridging therapy before liver transplantation. He had a good response to NTBC therapy with an improvement in liver chemistries and synthetic functions. Subsequently, living donor liver transplantation (LDLT) was performed at 15 months old. Long-term follow-up for 6.3 years following LDLT revealed normal growth, good school performance, normal liver, renal tubular, and glomerular functions, and without urinary excretion of succinylacetone. Conclusion: Liver transplantation is a promising treatment for patients with HT-I when NTBC is unavailable, resulting in a good long-term outcome.en_US
dc.rightsMahidol Universityen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84855566151&origin=inwarden_US
dc.subjectMedicineen_US
dc.titleLong-Term outcome of living donor liver transplantation in a thai boy with hereditary tyrosinemia type I: A case reporten_US
dc.typeArticleen_US
dc.rights.holderSCOPUSen_US
Appears in Collections:Scopus 2011-2015

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