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tyrosinemia type 1
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Hepatocellular carcinoma in an infant with tyrosinemia type 1
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene
2017 |
First Faculty of Medicine
publication
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
2022 |
First Faculty of Medicine
publication
Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle
2022 |
First Faculty of Medicine