TYROSINEMIA

作品数：8被引量：13H指数：2
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Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways
《Genes & Diseases》2023年第5期1759-1762,共4页Colemonts-Vroninks Haaike Norman P.Brendan Van Laere Sven Davison S.Andrew Marcélis Lionel Casimir Georges Goyens Philippe Claes Paul De Bundel Dimitri Martens Geert Ranganath Lakshminarayan Rao Vanhaecke Tamara Gallagher James A De Kock Joery 
funded by the Research Foundation-Flanders(FWO)(No.1518619N and G041521N);the Research Council(OZR)of the Vrije Universiteit Brussel(VUB),the Hercules Foundation,Wetenschappelijk Fonds Willy Gepts(WFWG)from the UZ Brussel and a Medical Grant from Swedish Orphan Biovitrum(SOBI)(No.AIIFUND37).
Hereditary tyrosinemia type 1(HT1)is a life-threatening disease caused by the patient's inability to break down tyrosine due to loss-of-function mutations in the fumarylacetoacetate hydrolase(FAH)enzyme(Fig.S1).Curren...
关键词：CONTINUATION Figure HEREDITARY 
Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era被引量：2
《World Journal of Hepatology》2017年第9期487-490,共4页Essam M Imseis John S Bynon Chad Thornhill 
Hereditary tyrosinemia type 1(HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembl...
关键词：TYROSINEMIA SCREENING Hepatocellular carcinoma Liver transplantation 
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