Tyrosinemia, Type I

Known as: Hepatorenal Tyrosinemias, Hypertyrosinemias, Type I, Hypertyrosinemia, Type I 
Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe… (More)
National Institutes of Health

Papers overview

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2012
2012
NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3cyclohexanedione) is the mainstay of treatment in tyrosinemia type 1 (HT 1). The… (More)
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2010
2010
A 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for… (More)
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Review
2006
Review
2006
Hereditary tyrosinemia type I (HT-I) is the most common of the three known diseases caused by defects in tyrosine metabolism… (More)
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Highly Cited
2006
Highly Cited
2006
Viruses and transposons are efficient tools for permanently delivering foreign DNA into vertebrate genomes but exhibit diminished… (More)
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2006
2006
BACKGROUND Tyrosinemia type I is associated with an increased risk of liver cancer development. The formation of the pathogenic… (More)
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2005
2005
Phage phiC31 integrase is a site-specific recombinase that mediates efficient integration of circular extrachromosomal DNA into… (More)
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Highly Cited
2001
Highly Cited
2001
Patients suffering from the metabolic disease hereditary tyrosinemia type I (HT1), caused by fumarylacetoacetate hydrolase… (More)
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1999
1999
Hereditary tyrosinemia type I and alkaptonuria are disorders of tyrosine catabolism caused by deficiency of fumarylacetoacetate… (More)
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1993
1993
Two Norwegian patients with chronic tyrosinemia type I showed > 50% residual fumarylacetoacetase activity in liver samples… (More)
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1989
1989
Hereditary tyrosinemia type I presents with either acute hepatic failure in the neonatal period or later in infancy with… (More)
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