Helena Hůlková

Affiliations

Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Publications (7)

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

Kidney international

Avec: Martina Živná , Kendrah Kidd , Mohamad Zaidan , Petr Vyleťal , Veronika Barešová , Kateřina Hodaňová , Jana Sovová , Hana Hartmannová , Miroslav Votruba , Helena Trešlová , Ivana Jedličková , Jakub Sikora , Helena Hůlková , Victoria Robins , Aleš Hnízda , Jan Živný , Gregory Papagregoriou , Laurent Mesnard , Bodo B Beck , Andrea Wenzel , Kálmán Tory , Karsten Häeffner , Matthias T F Wolf , Michael E Bleyer , John A Sayer , Albert C M Ong , Lídia Balogh , Anna Jakubowska , Agnieszka Łaszkiewicz , Rhian Clissold , Charles Shaw-Smith , Raj Munshi , Robert M Haws , Claudia Izzi , Irene Capelli , Marisa Santostefano , Claudio Graziano , Francesco Scolari , Amy Sussman , Howard Trachtman , Stephane Decramer , Marie Matignon , Philippe Grimbert , Lawrence R Shoemaker , Christoforos Stavrou , Mayssa Abdelwahed , Neila Belghith , Matthew Sinclair , Kathleen Claes , Tal Kopel , Sharon Moe , Constantinos Deltas , Bertrand Knebelmann , Luca Rampoldi , Stanislav Kmoch , Anthony J Bleyer

Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria.

Human mutation

Avec: Insun Park , Helena Hůlková , Jakub Krijt , Viktor Kožich , Erez M Bublil , Tomas Majtan

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.

European journal of human genetics : EJHG

Avec: Ivana Jedličková , Maxime Cadieux-Dion , Anna Přistoupilová , Viktor Stránecký , Hana Hartmannová , Kateřina Hodaňová , Veronika Barešová , Helena Hůlková , Jakub Sikora , Lenka Nosková , Dita Mušálková , Petr Vyleťal , Jana Sovová , Patrick Cossette , Eva Andermann , Frederick Andermann , Stanislav Kmoch , Auteur inconnu

BILATERAL AMYLOIDOSIS OF THREE EYELIDS. A CASE REPORT.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti

Avec: J Krásný , J Šach , H Hůlková , P Pavlíček

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

Kidney international

Avec: Tereza Kmochová , Kendrah O Kidd , Andrew Orr , Aleš Hnízda , Hana Hartmannová , Kateřina Hodaňová , Petr Vyleťal , Karolína Naušová , Vítězslav Brinsa , Helena Trešlová , Jana Sovová , Veronika Barešová , Klára Svojšová , Alena Vrbacká , Viktor Stránecký , Victoria C Robins , Abbigail Taylor , Lauren Martin , Ana Rivas-Chavez , Riley Payne , Heidi Bleyer , Adrienne Williams , Helmut G Rennke , Astrid Weins , Patrick J Short , Varun Agrawal , Leroy J Storsley , Sushrut Waikar , Ellen D McPhail , Surendra Dasari , Nelson Leung , Tom Hewlett , Jake Yorke , Daniel Gaston , Laurette Geldenhuys , Mark Samuels , Adam P Levine , Michael West , Helena Hůlková , Petr Pompach , Petr Novák , Richard B Weinberg , Karen Bedard , Martina Živná , Jakub Sikora , Anthony J Bleyer , Stanislav Kmoch

Autosomal dominant tubulointerstitial kidney disease: A review.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Martina Živná , Kendrah O Kidd , Veronika Barešová , Helena Hůlková , Stanislav Kmoch , Anthony J Bleyer

A Novel Monoallelic

Kidney international reports

Avec: Elhussein A E Elhassan , Tereza Kmochová , Katherine A Benson , Neil K Fennelly , Veronika Barešová , Kendrah Kidd , Brendan Doyle , Anthony Dorman , Martina M Morrin , Niamh C Kyne , Petr Vyleťal , Hana Hartmannová , Kateřina Hodaňová , Jana Sovová , Dita Mušálková , Alena Vrbacká , Anna Přistoupilová , Jan Živný , Klára Svojšová , Martin Radina , Viktor Stránecký , Dmitry Loginov , Petr Pompach , Petr Novák , Zdislava Vaníčková , Hana Hansíková , Silvie Rajnochová-Bloudíčková , Ondřej Viklický , Helena Hůlková , Gianpiero L Cavalleri , Aleš Hnízda , Anthony J Bleyer , Stanislav Kmoch , Peter J Conlon , Martina Živná

Réseau de co-auteurs

Veronika Barešová 5 collaborations

Stanislav Kmoch 5 collaborations

Martina Živná 4 collaborations

Petr Vyleťal 4 collaborations

Kateřina Hodaňová 4 collaborations

Jana Sovová 4 collaborations

Hana Hartmannová 4 collaborations

Anthony J Bleyer 4 collaborations

Jakub Sikora 3 collaborations

Aleš Hnízda 3 collaborations

Viktor Stránecký 3 collaborations

Kendrah Kidd 2 collaborations

Helena Trešlová 2 collaborations

Ivana Jedličková 2 collaborations

Jan Živný 2 collaborations

Anna Přistoupilová 2 collaborations

Dita Mušálková 2 collaborations

Tereza Kmochová 2 collaborations

Kendrah O Kidd 2 collaborations

Klára Svojšová 2 collaborations

Alena Vrbacká 2 collaborations

Petr Pompach 2 collaborations

Petr Novák 2 collaborations

Mohamad Zaidan 1 collaboration

Miroslav Votruba 1 collaboration

Victoria Robins 1 collaboration

Gregory Papagregoriou 1 collaboration

Laurent Mesnard 1 collaboration

Bodo B Beck 1 collaboration

Andrea Wenzel 1 collaboration

Kálmán Tory 1 collaboration

Karsten Häeffner 1 collaboration

Matthias T F Wolf 1 collaboration

Michael E Bleyer 1 collaboration

John A Sayer 1 collaboration

Albert C M Ong 1 collaboration

Lídia Balogh 1 collaboration

Anna Jakubowska 1 collaboration

Agnieszka Łaszkiewicz 1 collaboration

Rhian Clissold 1 collaboration

Charles Shaw-Smith 1 collaboration

Raj Munshi 1 collaboration

Robert M Haws 1 collaboration

Claudia Izzi 1 collaboration

Irene Capelli 1 collaboration

Marisa Santostefano 1 collaboration

Claudio Graziano 1 collaboration

Francesco Scolari 1 collaboration

Amy Sussman 1 collaboration

Howard Trachtman 1 collaboration

Stephane Decramer 1 collaboration

Marie Matignon 1 collaboration

Philippe Grimbert 1 collaboration

Lawrence R Shoemaker 1 collaboration

Christoforos Stavrou 1 collaboration

Mayssa Abdelwahed 1 collaboration

Neila Belghith 1 collaboration

Matthew Sinclair 1 collaboration

Kathleen Claes 1 collaboration

Tal Kopel 1 collaboration

Sharon Moe 1 collaboration

Constantinos Deltas 1 collaboration

Bertrand Knebelmann 1 collaboration

Luca Rampoldi 1 collaboration

Insun Park 1 collaboration

Jakub Krijt 1 collaboration

Viktor Kožich 1 collaboration

Erez M Bublil 1 collaboration

Tomas Majtan 1 collaboration

Maxime Cadieux-Dion 1 collaboration

Lenka Nosková 1 collaboration

Patrick Cossette 1 collaboration

Eva Andermann 1 collaboration

Frederick Andermann 1 collaboration

None None 1 collaboration

J Krásný 1 collaboration

J Šach 1 collaboration

H Hůlková 1 collaboration

P Pavlíček 1 collaboration

Andrew Orr 1 collaboration

Karolína Naušová 1 collaboration

Vítězslav Brinsa 1 collaboration

Victoria C Robins 1 collaboration

Abbigail Taylor 1 collaboration

Lauren Martin 1 collaboration

Ana Rivas-Chavez 1 collaboration

Riley Payne 1 collaboration

Heidi Bleyer 1 collaboration

Adrienne Williams 1 collaboration

Helmut G Rennke 1 collaboration

Astrid Weins 1 collaboration

Patrick J Short 1 collaboration

Varun Agrawal 1 collaboration

Leroy J Storsley 1 collaboration

Sushrut Waikar 1 collaboration

Ellen D McPhail 1 collaboration

Surendra Dasari 1 collaboration

Nelson Leung 1 collaboration

Tom Hewlett 1 collaboration

Jake Yorke 1 collaboration

Daniel Gaston 1 collaboration

Laurette Geldenhuys 1 collaboration

Mark Samuels 1 collaboration

Adam P Levine 1 collaboration

Michael West 1 collaboration

Richard B Weinberg 1 collaboration

Karen Bedard 1 collaboration

Elhussein A E Elhassan 1 collaboration

Katherine A Benson 1 collaboration

Neil K Fennelly 1 collaboration

Brendan Doyle 1 collaboration

Anthony Dorman 1 collaboration

Martina M Morrin 1 collaboration

Niamh C Kyne 1 collaboration

Martin Radina 1 collaboration

Dmitry Loginov 1 collaboration

Zdislava Vaníčková 1 collaboration

Hana Hansíková 1 collaboration

Silvie Rajnochová-Bloudíčková 1 collaboration

Ondřej Viklický 1 collaboration

Gianpiero L Cavalleri 1 collaboration

Peter J Conlon 1 collaboration