Anna Cechova

Affiliations

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Publications (4)

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

Journal of inherited metabolic disease

Avec: Ruqaiah Altassan , Silvia Radenkovic , Andrew C Edmondson , Rita Barone , Sandra Brasil , Anna Cechova , David Coman , Sarah Donoghue , Kristina Falkenstein , Vanessa Ferreira , Carlos Ferreira , Agata Fiumara , Rita Francisco , Hudson Freeze , Stephanie Grunewald , Tomas Honzik , Jaak Jaeken , Donna Krasnewich , Christina Lam , Joy Lee , Dirk Lefeber , Dorinda Marques-da-Silva , Carlota Pascoal , Dulce Quelhas , Kimiyo M Raymond , Daisy Rymen , Malgorzata Seroczynska , Mercedes Serrano , Jolanta Sykut-Cegielska , Christian Thiel , Frederic Tort , Mari-Anne Vals , Paula Videira , Nicol Voermans , Peter Witters , Eva Morava

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

BMC ophthalmology

Avec: Martina Farolfi , Anna Cechova , Nina Ondruskova , Jana Zidkova , Bohdan Kousal , Hana Hansikova , Tomas Honzik , Petra Liskova

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

Journal of inherited metabolic disease

Avec: Ruqaiah Altassan , Romain Péanne , Jaak Jaeken , Rita Barone , Muad Bidet , Delphine Borgel , Sandra Brasil , David Cassiman , Anna Cechova , David Coman , Javier Corral , Joana Correia , María Eugenia de la Morena-Barrio , Pascale de Lonlay , Vanessa Dos Reis , Carlos R Ferreira , Agata Fiumara , Rita Francisco , Hudson Freeze , Simone Funke , Thatjana Gardeitchik , Matthijs Gert , Muriel Girad , Marisa Giros , Stephanie Grünewald , Trinidad Hernández-Caselles , Tomas Honzik , Marlen Hutter , Donna Krasnewich , Christina Lam , Joy Lee , Dirk Lefeber , Dorinda Marques-de-Silva , Antonio F Martinez , Hossein Moravej , Katrin Õunap , Carlota Pascoal , Tiffany Pascreau , Marc Patterson , Dulce Quelhas , Kimiyo Raymond , Peymaneh Sarkhail , Manuel Schiff , Małgorzata Seroczyńska , Mercedes Serrano , Nathalie Seta , Jolanta Sykut-Cegielska , Christian Thiel , Federic Tort , Mari-Anne Vals , Paula Videira , Peter Witters , Renate Zeevaert , Eva Morava

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

Biochimica et biophysica acta. General subjects

Avec: Nina Ondruskova , Anna Cechova , Hana Hansikova , Tomas Honzik , Jaak Jaeken

Réseau de co-auteurs

Tomas Honzik 4 collaborations

Jaak Jaeken 3 collaborations

Ruqaiah Altassan 2 collaborations

Rita Barone 2 collaborations

Sandra Brasil 2 collaborations

David Coman 2 collaborations

Agata Fiumara 2 collaborations

Rita Francisco 2 collaborations

Hudson Freeze 2 collaborations

Donna Krasnewich 2 collaborations

Christina Lam 2 collaborations

Joy Lee 2 collaborations

Dirk Lefeber 2 collaborations

Carlota Pascoal 2 collaborations

Dulce Quelhas 2 collaborations

Mercedes Serrano 2 collaborations

Jolanta Sykut-Cegielska 2 collaborations

Christian Thiel 2 collaborations

Mari-Anne Vals 2 collaborations

Paula Videira 2 collaborations

Peter Witters 2 collaborations

Eva Morava 2 collaborations

Nina Ondruskova 2 collaborations

Hana Hansikova 2 collaborations

Silvia Radenkovic 1 collaboration

Andrew C Edmondson 1 collaboration

Sarah Donoghue 1 collaboration

Kristina Falkenstein 1 collaboration

Vanessa Ferreira 1 collaboration

Carlos Ferreira 1 collaboration

Stephanie Grunewald 1 collaboration

Dorinda Marques-da-Silva 1 collaboration

Kimiyo M Raymond 1 collaboration

Daisy Rymen 1 collaboration

Malgorzata Seroczynska 1 collaboration

Frederic Tort 1 collaboration

Nicol Voermans 1 collaboration

Martina Farolfi 1 collaboration

Jana Zidkova 1 collaboration

Bohdan Kousal 1 collaboration

Petra Liskova 1 collaboration

Romain Péanne 1 collaboration

Muad Bidet 1 collaboration

Delphine Borgel 1 collaboration

David Cassiman 1 collaboration

Javier Corral 1 collaboration

Joana Correia 1 collaboration

María Eugenia de la Morena-Barrio 1 collaboration

Pascale de Lonlay 1 collaboration

Vanessa Dos Reis 1 collaboration

Carlos R Ferreira 1 collaboration

Simone Funke 1 collaboration

Thatjana Gardeitchik 1 collaboration

Matthijs Gert 1 collaboration

Muriel Girad 1 collaboration

Marisa Giros 1 collaboration

Stephanie Grünewald 1 collaboration

Trinidad Hernández-Caselles 1 collaboration

Marlen Hutter 1 collaboration

Dorinda Marques-de-Silva 1 collaboration

Antonio F Martinez 1 collaboration

Hossein Moravej 1 collaboration

Katrin Õunap 1 collaboration

Tiffany Pascreau 1 collaboration

Marc Patterson 1 collaboration

Kimiyo Raymond 1 collaboration

Peymaneh Sarkhail 1 collaboration

Manuel Schiff 1 collaboration

Małgorzata Seroczyńska 1 collaboration

Nathalie Seta 1 collaboration

Federic Tort 1 collaboration

Renate Zeevaert 1 collaboration