Classes
Publications
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- Biochemical nad molecular characteristics in 11 czech children with tyrosinemia type I2010 | First Faculty of Medicine
- Hepatocellular carcinoma in an infant with tyrosinemia type 12023 | First Faculty of Medicine, Second Faculty of Medicine
- Inherited disorders of carbohydrate metabolism2023 | First Faculty of Medicine
- Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes2023 | First Faculty of Medicine
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | First Faculty of Medicine
- Hematopoietic stem cell transplantation in children with inborn errors of metabolism and malignant infantile osteopetrosis2022 | First Faculty of Medicine, Second Faculty of Medicine
- Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene2022 | First Faculty of Medicine
- Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease2022 | First Faculty of Medicine
- A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome2022 | First Faculty of Medicine
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