Publikace
- Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?2021 | 1. lékařská fakulta
- Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case2019 | 1. lékařská fakulta
- Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene2019 | 1. lékařská fakulta
- Deficit fosfomanomutázy 2: klinická, biochemická a molekulárně-genetická charakteristika 22 pacientů diagnostikovaných v České republice2018 | 1. lékařská fakulta
- Congenital disorders of glycosylation: Still "hot" in 20202021 | 1. lékařská fakulta
- International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management2021 | 1. lékařská fakulta
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | 1. lékařská fakulta
- Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation2020 | 1. lékařská fakulta
- International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up2019 | 1. lékařská fakulta
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