Universität zu Köln

Journal Article

Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Buescher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc ORCID: 0000-0001-8857-7100, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wuehl, Elke, Yilmaz, Alev, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2022). Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease. Kidney Int. Rep., 7 (7). S. 1643 - 1653. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Burgmaier, Kathrin, Ariceta, Gema, Bald, Martin, Buescher, Anja Katrin, Burgmaier, Mathias, Erger, Florian, Gessner, Michaela, Gokce, Ibrahim, Koenig, Jens, Kowalewska, Claudia, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Pape, Lars, Patzer, Ludwig, Potemkina, Alexandra, Schalk, Gesa, Schild, Raphael, Shroff, Rukshana, Szczepanska, Maria, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Weber, Lutz Thorsten, Wuehl, Elke, Wurm, Donald, Wygoda, Simone, Zagozdzon, Ilona, Doetsch, Joerg, Oh, Jun, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2020). Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD). Sci Rep, 10 (1). BERLIN: NATURE RESEARCH. ISSN 2045-2322

Burgmaier, Kathrin, Brinker, Leonie, Erger, Florian, Beck, Bodo B., Benz, Marcus R., Bergmann, Carsten, Boyer, Olivia, Collard, Laure, Dafinger, Claudia, Fila, Marc, Kowalewska, Claudia, Lange-Sperandio, Baerbel, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Ortiz-Bruechle, Nadina, Patzer, Ludwig, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Schild, Raphael, Seeman, Tomas, Sever, Lale, Sikora, Przemyslaw ORCID: 0000-0002-5698-6863, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Teixeira, Ana, Thumfart, Julia, Uetz, Barbara, Weber, Lutz Thorsten, Wuehl, Elke, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2021). Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney Int., 100 (3). S. 650 - 660. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Nalcacioglu, Hulya ORCID: 0000-0002-0686-9714, Rus, Rina, Shroff, Rukshana ORCID: 0000-0001-8501-1072, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph (2021). Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD. Sci Rep, 11 (1). BERLIN: NATURE PORTFOLIO. ISSN 2045-2322

Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian ORCID: 0000-0002-2768-1702, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim ORCID: 0000-0002-6896-5162, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa ORCID: 0000-0002-0702-4932, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata ORCID: 0000-0001-6613-1642, Tabel, Yilmaz, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Testa, Sara, Thumfart, Julia ORCID: 0000-0003-1162-5295, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2018). Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J. Pediatr., 199. S. 22 - 35. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6833

Burgmaier, Kathrin and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2022). Autosomal recessive polycystic kidney disease (ARPKD)-lessons learned from the international ARPKD registry study ARegPKD. Nephrologe, 17 (3). S. 157 - 163. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1862-0418

De Rechter, Stephanie, Caliskan, Salim, Dusan, Paripovic, Groothoff, Jaap W., Lungu, Adrian, Massella, Laura, Montini, Giovanni, Prikhodina, Larisa ORCID: 0000-0002-0702-4932, Ranchin, Bruno, Ronit, Chafai, Seeman, Tomas, Sinha, Manish, Teixeira, Ana, Tkaczyk, Marcin, Torra, Roser, Bammens, Bert, Schaefer, Franz, Liebau, Max Christoph and Mekahli, Djalila (2018). ADPEDKD: AN INTERNATIONAL WEB-BASED DATABASE FOR LONGITUDINAL DATA REGISTRY OF CHILDREN WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD). Pediatr. Nephrol., 33 (10). S. 1920 - 1921. NEW YORK: SPRINGER. ISSN 1432-198X

De Rechter, Stephanie, Kringen, Jonathan, Janssens, Peter, Liebau, Max Christoph, Devriendt, Koenraad, Levtchenko, Elena, Bergmann, Carsten, Jouret, Francois, Bammens, Bert ORCID: 0000-0002-2477-2633, Borry, Pascal, Schaefer, Franz and Mekahli, Djalila (2017). CAREGIVERS' ATTITUDE TOWARDS FAMILY PLANNING AND TIMING OF DIAGNOSIS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. Pediatr. Nephrol., 32 (9). S. 1757 - 1759. NEW YORK: SPRINGER. ISSN 1432-198X

De Rechter, Stephanie, Kringen, Jonathan, Janssens, Peter, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Devriendt, Koenraad, Levtchenko, Elena, Bergmann, Carsten, Jouret, Francois, Bammens, Bert ORCID: 0000-0002-2477-2633, Borry, Pascal ORCID: 0000-0002-4931-9560, Schaefer, Franz and Mekahli, Djalila ORCID: 0000-0003-0954-6088 (2017). Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease. PLoS One, 12 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Ebner, Kathrin, Dafinger, Claudia, Ortiz-Bruechle, Nadina, Koerber, Friederike, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Benzing, Thomas, Doetsch, Joerg, Zerres, Klaus, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Pediatr. Nephrol., 32 (7). S. 1269 - 1274. NEW YORK: SPRINGER. ISSN 1432-198X

Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Dursun, Ismail, Duzova, Ali, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Goekce, Ibrahim, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Kunzmann, Kevin, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila, Melek, Engin, Miklaszewska, Monika, Ranchin, Bruno, Sander, Anja, Shroff, Rukshana, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota, Yuzbasioglu, Ayse, Zachwieja, Katarzyna, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph (2017). CHARACTERIZATION OF POTENTIAL RISK MARKERS OF THE RENAL ARPKD PHENOTYPE. Pediatr. Nephrol., 32 (9). S. 1768 - 1770. NEW YORK: SPRINGER. ISSN 1432-198X

Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph (2015). AREGPKD - A EUROPEAN ARPKD REGISTRY STUDY. Pediatr. Nephrol., 30 (9). S. 1673 - 1675. NEW YORK: SPRINGER. ISSN 1432-198X

Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2015). Rationale, design and objectives of ARegPKD, a European ARPKD registry study. BMC Nephrol., 16. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2369

Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2015). Rationale, design and objectives of ARegPKD, a European ARPKD registry study. BMC Nephrol., 16. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2369

Ebner, Kathrin, Feldkoetter, Markus, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Konrad, Martin, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila, Ranchin, Bruno, Testa, Sara, Weber, Lutz Thorsten, Zerres, Klaus, Schaefer, Franz, Doetsch, Joerg and Liebau, Max Christoph (2014). Aregpkd - A European Arpkd Registry Study. Pediatr. Nephrol., 29 (9). S. 1835 - 1836. NEW YORK: SPRINGER. ISSN 1432-198X

Ebner, Kathrin, Reintjes, Nadine, Feldkoetter, Markus, Koerber, Friederike, Nagel, Mato, Doetsch, Joeg, Hoppe, Bernd, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome. Clin. Nephrol., 88 (1). S. 45 - 52. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

Ebner, Kathrin, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease. Front. Pediatr., 5. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

Eich, Gwendolyn, Bartosova, Maria, Tischer, Christian, Wlodkowski, Tanja Tamara, Schaefer, Betti, Pichl, Sebastian, Kraewer, Nicole, Ranchin, Bruno, Vondrak, Karel, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Hackert, Thilo and Schmitt, Claus Peter (2017). Bicarbonate buffered peritoneal dialysis fluid upregulates angiopoietin-1 and promotes vessel maturation. PLoS One, 12 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Gimpel, Charlotte ORCID: 0000-0003-1296-9081, Liebau, Max Christoph ORCID: 0000-0003-0494-9080 and Schaefer, Franz (2020). Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease-are patient-centered outcomes our blind spot? Pediatr. Nephrol., 36 (12). S. 3841 - 3852. NEW YORK: SPRINGER. ISSN 1432-198X

Hackl, Agnes, Cseprekal, Orsolya, Gessner, Michaela, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Habbig, Sandra, Ehren, Rasmus, Muller, Carsten, Taylan, Christina, Doetsch, Joerg and Weber, Lutz T. (2016). Mycophenolate Mofetil Therapy in Children With Idiopathic Nephrotic Syndrome: Does Therapeutic Drug Monitoring Make a Difference? Ther. Drug Monit., 38 (2). S. 274 - 280. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1536-3694

Janssens, Peter ORCID: 0000-0002-0981-8621, Weydert, Caroline ORCID: 0000-0001-6598-4395, De Rechter, Stephanie, Wissing, Karl Martin, Liebau, Max Christoph ORCID: 0000-0003-0494-9080 and Mekahli, Djalila ORCID: 0000-0003-0954-6088 (2018). Expanding the role of vasopressin antagonism in polycystic kidney diseases: From adults to children? Pediatr. Nephrol., 33 (3). S. 395 - 409. NEW YORK: SPRINGER. ISSN 1432-198X

Kaczmarek, Alexander Tobias, Bender, Daniel, Gehling, Titus, Kohl, Joshua Benedict, Daimagueler, Hulya-Sevcan, Santamaria-Araujo, Jose Angel, Liebau, Max Christoph, Koy, Anne, Cirak, Sebahattin and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2022). A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency. J. Inherit. Metab. Dis., 45 (2). S. 169 - 183. HOBOKEN: WILEY. ISSN 1573-2665

Koenig, Jens Christian, Karsay, Rebeka, Gerss, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurelia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stephane, Schanstra, Joost P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Toenshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra and Konrad, Martin (2022). Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney Int. Rep., 7 (9). S. 2016 - 2029. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2021). Early clinical management of autosomal recessive polycystic kidney disease. Pediatr. Nephrol., 36 (11). S. 3561 - 3571. NEW YORK: SPRINGER. ISSN 1432-198X

Liebau, Max Christoph (2021). Is There a Functional Role of Mitochondrial Dysfunction in the Pathogenesis of ARPKD? Front. Med., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-858X

Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2014). An emerging molecular understanding and novel targeted treatment approaches in pediatric kidney diseases. Front. Pediatr., 2. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

Liebau, Max Christoph, Dafinger, Claudia, Schmedding, Ingolf, Habbig, Sandra, Rinner, Oliver, Aebersold, Rudolf, Bruening, Jens Claus, Wunderlich, Frank Thomas, Benzing, Thomas and Schermer, Bernhard ORCID: 0000-0002-5194-9000 (2014). Ruvbl1 Forms Part Of Disease-associated Protein Complexes At The Ciliary Base And Is Essential For Tubular Architecture In Vivo. Pediatr. Nephrol., 29 (9). S. 1828 - 1830. NEW YORK: SPRINGER. ISSN 1432-198X

Nuesken, Eva, Fink, Gregor, Lechner, Felix, Voggel, Jenny, Wohlfarth, Maria, Sprenger, Lisa, Mehdiani, Nava, Weber, Lutz T., Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Brachvogel, Bent, Doetsch, Joerg and Nuesken, Kai-Dietrich (2020). Altered molecular signatures during kidney development after intrauterine growth restriction of different origins. J. Mol. Med., 98 (3). S. 395 - 408. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1440

Wicher, Dorota, Grenda, Ryszard, Teisseyre, Mikolaj, Szymczak, Marek, Halat-Wolska, Paulina, Jurkiewicz, Dorota, Liebau, Max Christoph, Ciara, Elztbieta, Rydzanicz, Malgorzata, Kosinska, Joanna, Chrzanowska, Krystyna and Jankowska, Irena (2020). Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD). Front. Pediatr., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360