Classes
Publications
- Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation2016 | First Faculty of Medicine
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- Girl with congenital disorder of glycosylation - case report2009 | 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
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