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 
Persistent coagulopathy during Streptococcus pneumoniae sepsis and left foot abscess in a previously healthy infant revealed tyrosinemia被引量：1
《Pediatric Investigation》2021年第4期327-328,共2页Bing Liu Lingyun Guo Xue Ning Gang Liu 
This work was supported by the Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority(No.XTZD20180501);Beijing Hospitals Authority“Dengfeng”Talent Training Plan(DFL 20181201).
To the editor:A 2-month-old boy presenting with left foot swollen for four days was admitted to our hospital.The temperature was normal.There was no vomit,seizure or diarrhea.Left foot abscess incision drainage was gi...
关键词：ABSCESS admitted DIARRHEA 
Pediatric metabolic liver diseases:Evolving role of liver transplantation被引量：1
《World Journal of Transplantation》2021年第6期161-179,共19页Jagadeesh Menon Mukul Vij Deepti Sachan Ashwin Rammohan Naresh Shanmugam Ilankumaran Kaliamoorthy Mohamed Rela 
Metabolic liver diseases(MLD)are the second most common indication for liver transplantation(LT)in children.This is based on the fact that the majority of enzymes involved in various metabolic pathways are present wit...
关键词：Liver transplantation Metabolic liver disease TYROSINEMIA Wilson disease Glycogen storage diseases Urea cycle disorders PATHOLOGY Auxiliary liver transplant 
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 
An Unusual and Previously Unreported Association between Tyrosinemia Type 1 and an Extremely Rare Variation of Congenital Cystic Dilatation: TODANI’s VI Cystic Duct Cyst: Report of a Case
《Journal of Biosciences and Medicines》2016年第12期126-131,共7页Laila Essabar Hajar Rghouda Saloua Dahri Layachi Chabraoui Latifa Chat Yamna Kriouile 
Cystic duct cysts are rare lesions, and type VI of TODANI’s modified classification is the rarest subtype with only sporadic case reports in the literature. The following report describes the coexistence of this enti...
关键词：Cystic Duct Choledochal Cyst TYROSINEMIA CHOLESTASIS NTBC NEONATE 
Tyrosinemia
《Discussion of Clinical Cases》2015年第1期7-13,共7页Chen Hua Jinli Hao Xin Wang Hong Cui Yajing Zhang 
A case of pediatric tyrosinemia in the Third Affiliated Hospital of Inner Mongolia Medical University was collected and analyzed on the basis of diagnosis,physical examination and treatment.Misdiagnosis of tyrosinemia...
关键词：TYROSINEMIA DIAGNOSIS TREATMENT PEDIATRIC 
Compound mutations （R237X and L375P） in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient被引量：5
《Chinese Medical Journal》2012年第12期2132-2136,共5页CAO Yan-yan ZHANG Yan-ling DU Juan QU Yu-jin ZHONG Xue-mei BAI Jin-li SONG Fang 
Background Mutations in fumarylacetoacetate hydrolase （FAH） gene can lead to tyrosinemia type 1 （HT1）, a relatively rare autosomal recessive disorder. To date, no molecular genetic defects of HT1 in China have bee...
关键词：fumarylacetoacetate hydrolase gene MUTATION nonsense-mediated mRNA deeay pathway tyrosinemia type 1 
Tyrosine aminotransferase: biochemical and structural properties and molecular dynamics simulations被引量：4
《Protein & Cell》2010年第11期1023-1032,共10页Prajwalini Mehere Qian Han Justin A.Lemkul Christopher J.Vavricka Howard Robinson David R.Bevan Jianyong Li 
supported in part by a research grant from NINDS(NS062836)。
Tyrosine aminotransferase(TAT)catalyzes the transamination of tyrosine and other aromatic amino acids.The enzyme is thought to play a role in tyrosinemia type II,hepatitis and hepatic carcinoma recovery.The objective ...
关键词：tyrosine aminotransferase crystal structure substrate specificity TYROSINE TYROSINEMIA 
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