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Tyrosinemia
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Hepatocellular carcinoma in an infant with tyrosinemia type 1
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Diagnostics of tyrosinemia type I
Publication without faculty affiliation
publication
Biochemical nad molecular characteristics in 11 czech children with tyrosinemia type I
2010 |
First Faculty of Medicine
publication
Nourishment at the treatment of thyrosinemia type I
Publication without faculty affiliation
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
Diagnostika Tyrosinemie typu I
Publication without faculty affiliation
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
publication
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
2012 |
First Faculty of Medicine
publication
Hepatoblastoma, etiology, case reports
2016 |
Second Faculty of Medicine
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Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders
2012 |
First Faculty of Medicine