- Girl with congenital disorder of glycosylation - case report2009 | First Faculty of Medicine
- Girl with congenital disorder of glycosylation - case report2009 | Publication without faculty affiliation
- Congenital Disorders of Glycosylation Type Ia: Clinical, Biochemical and Molecular Analyses in Two Siblings with Cerebellar Hypoplasia2003 | First Faculty of Medicine
- A new case of ALG8 deficiency (CDG Ih)2009 | First Faculty of Medicine, Third Faculty of Medicine
- CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans2006 | Faculty of Medicine in Hradec Králové, Central Library of Charles University
- A new role for dolichol isoform profile in the diagnostics of CDG disorders2020 | First Faculty of Medicine
- Congenital Disorders of Glycosylation (CDG)2001 | Faculty of Medicine in Hradec Králové
- Pompe disease, CDG syndromPublication without faculty affiliation
- Methodic Guide to Diagnostics of Congenital Disorders of Glycosylation (CDG)2003 | First Faculty of Medicine
- Transferrin D Protein Variants in the Diagnosis of Congenital Disorders of Glycosylation (CDG) +12009 | Faculty of Medicine in Hradec Králové
- Transferrin D Protein Variants in the Diagnosis of Congenital Disorders of Glycosylation (CDG)2009 | First Faculty of Medicine
- Protein glycosylation disorders, (CDG syndrome): molecular and biochemical charakteristics of family with CDG type IaPublication without faculty affiliation
- Carbohydrate-Deficient Glycoprotein Syndrome /CDGS/Publication without faculty affiliation
- Difficulties with the molecular diagnostics of patient with CDG la syndromePublication without faculty affiliation
- Unexpencted results of molecular diagnostics in a patient with CDG la syndromePublication without faculty affiliation
- Some clinical and laboratory aspects of CDG screening in children and adults +1Publication without faculty affiliation
- Methodic Guide to Diagnostics of Congenital Disorders of Glycosylation (CDG)2003 | Faculty of Medicine in Hradec Králové
- Haematological complications in 9 patients with CDG syndrome type IaPublication without faculty affiliation
- Iffy problems in molecular diagnostics in a patient with CDG la syndromePublication without faculty affiliation
- Stroke-like episodes in Czech patients with CDG syndrome type IAPublication without faculty affiliation
- Congenital Disorders of Glycosylation: A Review2016 | Faculty of Medicine in Hradec Králové
- Biochemical and molecular analyses in 8 children with CDG syndrome type IPublication without faculty affiliation
- Liver and kidney involvement in 15 patients with CDG syndrome Type IAPublication without faculty affiliation
- Clinical, biochemical and molecular analyses in 12 children with CDG syndromePublication without faculty affiliation
- Congenital disorders of glycosylation: Still "hot" in 20202021 | First Faculty of Medicine
- Screening and diagnosis of congenital disorders of glycosylation2007 | Publication without faculty affiliation
- Screening and diagnosis of congenital disorders of glycosylation2007 | First Faculty of Medicine
- Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation2016 | First Faculty of Medicine