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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.
2008
2008
Stem cell therapy for chronic liver disease—choosing the right tools for the job
The liver has a fantastic regenerative capacity but, following chronic liver damage, this begins to fail, and then fibrosis, and… 
2004
2004
Liquid chromatography-tandem mass spectrometry method for the simultaneous determination of delta-ALA, tyrosine and creatinine in biological fluids.
Review
2003
Review
2003
Hepatic stem cells: existence and origin.
Stem cells are not only units of biological organization, responsible for the development and the regeneration of tissue and… 
Highly Cited
2001
Highly Cited
2001
Renal function in long-term survivors of stem cell transplantation in childhood. A prospective trial
The aim of this prospective study was to assess glomerular and tubular renal function before, and 1 and 2 years after… 
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… 
Highly Cited
1972
Highly Cited
1972
Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase.
Highly Cited
1967
Highly Cited
1967
Transient tyrosinemia of the newborn: dietary and clinical aspects.
Neonatal tyrosinemia occurs with high frequency in newborn infants. The severity and prevalence of tyrosinemia is greater with… 
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