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Tyrosinemias

Known as: Hereditary Tyrosinemia, tyrosinaemia, Hypertyrosinemia 
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia… 
National Institutes of Health

Related topics

Related topics

21 relations

Broader (1)

Amino Acid Metabolism, Inborn Errors
Ascorbic AcidAscorbic Acid 1000 MG Extended Release Oral TabletAscorbic Acid 500 MG/ML Injectable SolutionHemin

Narrower (3)

HawkinsinuriaTyrosine Transaminase Deficiency DiseaseTyrosinemia, Type I

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
A rapid ultra performance liquid chromatography tandem mass spectrometric method for measuring amino acids associated with maple syrup urine disease, tyrosinaemia and phenylketonuria
Background: Patients with inherited disorders of amino acid metabolism including maple syrup urine disease, tyrosinaemia and… 
2004
2004
Liquid chromatography-tandem mass spectrometry method for the simultaneous determination of delta-ALA, tyrosine and creatinine in biological fluids.
2003
2003
Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I
In a male patient with hereditary tyrosinaemia type I (HTI), NTBC [2‐(2‐nitro‐4‐trifluoro‐methylbenzoyl)‐1,3‐cyclohexandion… 
2001
2001
Separation of free amino acids in human plasma by capillary electrophoresis with laser induced fluorescence: potential for emergency diagnosis of inborn errors of metabolism.
Review
1995
Review
1995
Diagnosis and management of tyrosinemia type I
&NA; Hereditary tyrosinemia type I (HTI) (MIM 276700) is an autosomal recessive disorder caused by deficiency of… 
Highly Cited
1993
Highly Cited
1993
Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1.
Mice homozygous for specific deletions around the albino locus on chromosome 7 die within the first few hours of birth. They have… 
1981
1981
Richner‐Hanhart syndrome (tyrosinaemia‐II) (report of four cases without ocular involvement)
Four cases of tyrosinaemia with cutaneous manifestations, but without ocular involvement, are reported in a family with… 
1981
1981
Neonatal mass screening for metabolic disorders
The present situation of neonatal mass screening for metabolic disorders in eleven European countries is presented. The only… 
Highly Cited
1972
Highly Cited
1972
Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase.
Review
1967
Review
1967
Tyrosinaemia and Tyrosyluria in Infancy
The finding of transient tyrosinaemia in 49 children in a community screening survey is described and suggestions made concerning… 
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