Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
about
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1Liver tumors in children with metabolic disordersComplete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathwayMechanisms and consequences of somatic mosaicism in humansCurative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1.Hereditary tyrosinaemia type I: from basics to progress in treatment.Somatic point mutations occurring early in development: a monozygotic twin study.In vivo reversion to normal of inherited mutations in humans.In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type miceGene therapy for liver enzyme deficiencies: what have we learned from models for Crigler-Najjar and tyrosinemia?Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation.Hypermethioninemias of genetic and non-genetic origin: A review.Fah Knockout Animals as Models for Therapeutic Liver Repopulation.Self-induced correction of the genetic defect in tyrosinemia type IA novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.Chromosomal integration of adenoviral vector DNA in vivo.Repeated transplantation of hepatocytes prevents fulminant hepatitis in a rat model of Wilson's disease.Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.Molecular Aspects of the FAH Mutations Involved in HT1 Disease.A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine.Homologous recombination mediates stable Fah gene integration and phenotypic correction in tyrosinaemia mouse-model.
P2860
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P2860
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
@en
type
label
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
@en
prefLabel
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
@en
P2093
P2860
P356
P1476
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
@en
P2093
Kvittingen EA
Rootwelt H
P2860
P304
P356
10.1172/JCI116393
P407
P577
1993-04-01T00:00:00Z