A. Čechová

发表

Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

E. Martins, A. Harroche, P. Witters, 2020, Journal of Inherited Metabolic Disease.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.

M. Michaelides, M. Tesařová, T. Honzík, 2019, Folia biologica.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

M. Patterson, H. Plotkin, Christina Lam, 2021, Molecular genetics and metabolism.

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

Congenital disorders of glycosylation: Still "hot" in 2020.

J. Jaeken, T. Honzík, H. Hansíková, 2020, Biochimica et biophysica acta. General subjects.

Anthropogenic radionuclides 3H, 14C, 85Kr, and 133Xe in the atmosphere around nuclear power reactors

P. Povinec, A. Šivo, A. Čechová, 1986 .

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.

M. Tesařová, J. Zeman, T. Honzík, 2019, Prague medical report.

Physical Activity and BMI before and after the Situation Caused by COVID-19 in Upper Primary School Pupils in the Czech Republic

J. Suchý, Jana Pyšná, L. Pyšný, 2022, International journal of environmental research and public health.

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

T. Honzík, P. Lišková, H. Hansíková, 2021, BMC Ophthalmology.