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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 3 free, full-text review articles. First few results:
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.
Last Updated: Mar 19, 2020

Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an extremely poor outcome. This review ...

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 ...

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3 Free Review Articles 10 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 ...

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients.
Last Updated: Feb 10, 2020

Phenylketonuria (PKU) is treated with dietary restrictions and sometimes tetrahydrobiopterin (BH4). PKU patients are at risk for developing micronutrient deficiencies, such as vitamin B12 and folic acid, likely due to their diet. Tyrosinemia type 1 (TT1) is similar to PKU in both ...

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 62 Research Articles