Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean.
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DOI: 10.1007/978-3-319-55780-9_1
Abstract: Given the interest of many people and families directly or indirectly affected by hereditary tyrosinemia (HT1), I have tried to give my view on the history of the disease from 1965 to 2015 (Fig. 1.1). read more here.
Keywords: tyrosinemia saguenay; lac jean; tyrosinemia; discovery hereditary ... See more keywords
Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.
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DOI: 10.1007/978-3-319-55780-9_2
Abstract: Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which… read more here.
Keywords: biochemical clinical; hereditary tyrosinemia; tyrosinemia type; disease ... See more keywords
Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
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DOI: 10.1016/j.ymgme.2019.01.019
Abstract: Hereditary tyrosinemia type 1 (HT1), the most severe disease of the tyrosine catabolic pathway, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). More than 90 disease-causing variants have been identified in the fah gene.… read more here.
Keywords: tyrosinemia type; fumarylacetoacetate hydrolase; hereditary tyrosinemia; atypical symptoms ... See more keywords
Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype
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DOI: 10.3390/genes14030693
Abstract: Hereditary tyrosinemia type 1 (HT1) is a genetic disorder of the tyrosine degradation pathway (TIMD) with unmet therapeutic needs. HT1 patients are unable to fully break down the amino acid tyrosine due to a deficient… read more here.
Keywords: ntbc therapy; liver disease; hereditary tyrosinemia; tyrosinemia type ... See more keywords
Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I
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DOI: 10.3390/ijms22041789
Abstract: Fumarylacetoacetate hydrolase (FAH) is the fifth enzyme in the tyrosine catabolism pathway. A deficiency in human FAH leads to hereditary tyrosinemia type I (HT1), an autosomal recessive disorder that results in the accumulation of toxic… read more here.
Keywords: hydrolase; hereditary tyrosinemia; tyrosinemia type; therapeutic targeting ... See more keywords