Hereditary tyrosinaemia type I: from basics to progress in treatment (Q34111877)

31 July 2017

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title

Hereditary tyrosinaemia type I: from basics to progress in treatment (English)

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31 July 2017

Pitkänen ST

1

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31 July 2017

Salo MK

series ordinal

2

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31 July 2017

Heikinheimo M

series ordinal

3

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31 July 2017

language of work or name

English

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publication date

1 November 2000

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31 July 2017

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31 July 2017

volume

32

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31 July 2017

issue

8

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31 July 2017

page(s)

530-538

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On the enzymic defects in hereditary tyrosinemia

31 July 2017

cites work

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Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone

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The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion

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Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors

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Complete 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 pathway

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Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity

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Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient

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Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I

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A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

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Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1

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Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

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Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I

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Two novel mutations involved in hereditary tyrosinemia type I

21 January 2018

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Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

21 January 2018

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Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus

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Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice.

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Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.

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The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

21 January 2018

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Tyrosinaemia type I — an update

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Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

21 January 2018

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Self-induced correction of the genetic defect in tyrosinemia type I

21 January 2018

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Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes

21 January 2018

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Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature

21 January 2018

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Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.

21 January 2018

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Homotransplantation of the liver in a patientwith hepatoma and hereditary tyrosinemia

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Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver

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Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh

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Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

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Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

21 January 2018

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Structure, polymorphism, and novel repeated DNA elements revealed by a complete sequence of the human alpha-fetoprotein gene

21 January 2018

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Tyrosinaemia--treatment and outcome

21 January 2018

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A radioimmunoassay using a monoclonal antibody to monitor the course of epithelial ovarian cancer

21 January 2018

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10.3109/07853890008998832

21 January 2018

Identifiers

DOI

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31 July 2017

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