Publications
- Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation2016 | First Faculty of Medicine
- OPA1 analysis in an international series of probands with bilateral optic atrophy2017 | First Faculty of Medicine
- Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families2017 | First Faculty of Medicine
- Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene2014 | First Faculty of Medicine
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