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Tyrosinemia type 1

Fumarylacetoacetase deficiencyHypertyrosinemiaHepatorenal tyrosinemia
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Tyrosinemia type 1" returned 2 free, full-text review articles. First 2 results:
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Last Updated: Dec 02, 2018

Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conducted a systematic review to investigate if treatment with nitisinone following ...

Hereditary Tyrosinemia Type 1 in Turkey.
Last Updated: Dec 05, 2017

Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the ...

Liver Cancer in Tyrosinemia Type 1.
Last Updated: Dec 05, 2017

Hereditary Tyrosinemia type I (HT1) is clinically mainly characterised by severe liver disease. Most patients present in their first months of life with liver failure, but others can present later with issues of compensated cirrhosis, renal tubulopathy or acute intermittent porphyria. ...

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2 Free Review Articles 9 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Tyrosinemia type 1" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Tyrosinemia type 1" returned 16 free, full-text research articles. First few results:
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Last Updated: Oct 23, 2019

Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted a retrospective observational multicentric study in Spanish HT1 patients treated with NTBC to assess clinical and biochemical ...

Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital.
Last Updated: Sep 04, 2019

To describe the liver imaging findings of Hereditary tyrosinemia type-1 (HT1) patients.

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16 Free Research Articles 60 Research Articles