Publications by authors named "Anna Cechova"

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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, Peter Witters, Anna Cechova

Hum Mutat· April 2025

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Physical Activity and BMI before and after the Situation Caused by COVID-19 in Upper Primary School Pupils in the Czech Republic.
Jana Pyšná, Ladislav Pyšný, David Cihlář, Dominika Petrů, Lenka Hajerová Müllerová

Int J Environ Res Public Health· March 2022

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Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, Can Ficicioglu, Mercedes Serrano

Mol Genet Metab· August 2021

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ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal

BMC Ophthalmol· June 2021

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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, Rita Barone, Sandra Brasil, Anna Cechova

J Inherit Metab Dis· January 2021

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Congenital disorders of glycosylation: Still "hot" in 2020.
Nina Ondruskova, Anna Cechova, Hana Hansikova, Tomas Honzik, Jaak Jaeken

Biochim Biophys Acta Gen Subj· January 2021

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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Anna Čechová, Ruqaiah Altassan, Delphine Borgel, Arnaud Bruneel, Joana Correia

J Inherit Metab Dis· July 2020

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Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.
Anna Čechová, Alice Baxová, Jiří Zeman, Lukáš Lambert, Tomáš Honzík

Prague Med Rep· January 2020

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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, Rita Barone, Muad Bidet, Anna Cechova

J Inherit Metab Dis· January 2019

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