- International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management2021 | 1. lékařská fakulta
- Oral D-galactose supplementation in PGM1-CDG2017 | 1. lékařská fakulta
- The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG2019 | 1. lékařská fakulta
- Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient2014 | 1. lékařská fakulta
- Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency2018 | 1. lékařská fakulta
- Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency2016 | 1. lékařská fakulta