- U-IMD: the first Unified European registry for inherited metabolic diseases2021 | First Faculty of Medicine
- The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases2022 | First Faculty of Medicine
- Microelements and inherited metabolic diseases2002 | Faculty of Medicine in Hradec Králové
- Reye Syndrome and Inherited Metabolic DiseasesPublication without faculty affiliation
- Newborn screening of inherited metabolic diseases in the Czech Republic +12018 | First Faculty of Medicine, Third Faculty of Medicine
- Problems with diagnostics of inherited metabolic diseases /IMD/Publication without faculty affiliation
- The role of TLC in the screening of inherited metabolic diseases1997 | Faculty of Medicine in Hradec Králové
- Clinical Diagnosis of Inherited Metabolic Diseases in the Czech Republic1998 | Faculty of Physical Education and Sport
- Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases2018 | First Faculty of Medicine
- Pompe disease in dogs and in humans share the same genetic cause2013 | First Faculty of Medicine
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision2021 | First Faculty of Medicine
- Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency2021 | First Faculty of Medicine
- Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM2008 | First Faculty of Medicine
- Inherited metabolic disorders2012 | First Faculty of Medicine
- Pelizaeus-Merzbacher disease2014 | First Faculty of Medicine
- Mucopolysaccharidoses - clinical manifestations, diagnostics and therapy2013 | First Faculty of Medicine
- A random finding of splenomegaly as the main symptom leading to the diagnosis of Niemann‑Pick type B disease in an adult patient2023 | First Faculty of Medicine
- Hereditary ataxias in the Czech Republic1998 | Central Library of Charles University, Second Faculty of Medicine
- Results of expanded newborn screening in the Czech Republic2014 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Congenital disorders of glycosylation: Still "hot" in 20202021 | First Faculty of Medicine
- Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation2020 | First Faculty of Medicine
- Phenylketonuria and its genetic background2002 | Third Faculty of Medicine
- Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment2018 | First Faculty of Medicine
- International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome2018 | First Faculty of Medicine
- X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients2012 | First Faculty of Medicine
- Newborn Screening in a Pandemic-Lessons Learned2023 | First Faculty of Medicine
- Enzyme replacement therapy in lysosomal storage diseases2015 | First Faculty of Medicine, Faculty of Physical Education and Sport