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1.

Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years.

Brügelmann, Malina; Müller, Sophia; Bohlen, Alina V; Hohenfellner, Katharina; Büscher, Anja; Kemper, Markus J; Fröde, Kerstin; Kanzelmeyer, Nele; Oh, Jun; Billing, Heiko; Gellermann, Jutta; Müller, Dominik; Weber, Lutz T; Acham-Roschitz, Birgit; Arbeiter, Klaus; Tönshoff, Burkhard; Hagenberg, Martina; Zebec, Mislav S; Haffner, Dieter; Zivicnjak, Miroslav.

Pediatr Nephrol; 2024 Jun 08.

Artículo en Inglés | MEDLINE | ID: mdl-38850407

2.

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

Veys, Koenraad; Zadora, Ward; Hohenfellner, Katharina; Bockenhauer, Detlef; Janssen, Mirian C H; Niaudet, Patrick; Servais, Aude; Topaloglu, Rezan; Besouw, Martine; Novo, Robert; Haffner, Dieter; Kanzelmeyer, Nele; Pape, Lars; Wühl, Elke; Harms, Erik; Awan, Atif; Sikora, Przemyslaw; Ariceta, Gema; van den Heuvel, Bert; Levtchenko, Elena.

J Inherit Metab Dis; 46(1): 43-54, 2023 01.

Artículo en Inglés | MEDLINE | ID: mdl-36117148

3.

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants.

Müller, Sophia; Kluck, Rika; Jagodzinski, Celina; Brügelmann, Malina; Hohenfellner, Katharina; Büscher, Anja; Kemper, Markus J; Fröde, Kerstin; Oh, Jun; Billing, Heiko; Thumfart, Julia; Weber, Lutz T; Acham-Roschitz, Birgit; Arbeiter, Klaus; Tönshoff, Burkhard; Hagenberg, Martina; Pavicic, Leo; Haffner, Dieter; Zivicnjak, Miroslav.

Pediatr Nephrol; 38(12): 3989-3999, 2023 12.

Artículo en Inglés | MEDLINE | ID: mdl-37415042

4.

Cystinosis. / Cystinose.

Hohenfellner, Katharina; Zerell, Kirstin; Haffner, Dieter.

Klin Monbl Augenheilkd; 240(3): 251-259, 2023 Mar.

Artículo en Inglés, Alemán | MEDLINE | ID: mdl-36977426

5.

Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.

Keidel, Leonie Franziska; Schworm, Benedikt; Hohenfellner, Katharina; Kruse, Franziska; Priglinger, Siegfried; Luft, Nikolaus; Priglinger, Claudia.

Klin Monbl Augenheilkd; 240(3): 266-275, 2023 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-36977427

6.

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.

Hohenfellner, Katharina; Nießl, Christina; Haffner, Dieter; Oh, Jun; Okorn, Christine; Palm, Katja; Schlingmann, Karl-Peter; Wygoda, Simone; Gahl, William Allen.

Mol Genet Metab; 136(4): 282-288, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35843134

7.

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.

Nießl, Christina; Boulesteix, Anne-Laure; Oh, Jun; Palm, Katja; Schlingmann, Peter; Wygoda, Simone; Haffner, Dieter; Wühl, Elke; Tönshoff, Burkhard; Buescher, Anja; Billing, Heiko; Hoppe, Bernd; Zirngibl, Matthias; Kettwig, Matthias; Moeller, Kristina; Acham-Roschitz, Birgit; Arbeiter, Klaus; Bald, Martin; Benz, Marcus; Galiano, Matthias; John-Kroegel, Ulrike; Klaus, Guenter; Marx-Berger, Daniela; Moser, Katja; Mueller, Dirk; Patzer, Ludwig; Pohl, Martin; Seitz, Barbara; Treikauskas, Ulrike; von Vigier, Rodo O; Gahl, William Allen; Hohenfellner, Katharina.

Mol Genet Metab; 136(4): 268-273, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35835062

8.

Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients.

Vill, Katharina; Müller-Felber, Wolfgang; Landfarth, Timotheus; Köppl, Christian; Herzig, Nadine; Knerr, Christine; Holla, Heike; Steidle, Günther; Harms, Erik; Hohenfellner, Katharina.

J Inherit Metab Dis; 45(2): 183-191, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-34888877

9.

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities.

Kluck, Rika; Müller, Sophia; Jagodzinski, Celina; Hohenfellner, Katharina; Büscher, Anja; Kemper, Markus J; Oh, Jun; Billing, Heiko; Thumfart, Julia; Weber, Lutz T; Acham-Roschitz, Birgit; Arbeiter, Klaus; Tönshoff, Burkhard; Hagenberg, Martina; Kanzelmeyer, Nele; Pavicic, Leo; Haffner, Dieter; Zivicnjak, Miroslav.

J Inherit Metab Dis; 45(2): 192-202, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-34989402

10.

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

Emma, Francesco; Hoff, William Van't; Hohenfellner, Katharina; Topaloglu, Rezan; Greco, Marcella; Ariceta, Gema; Bettini, Chiara; Bockenhauer, Detlef; Veys, Koenraad; Pape, Lars; Hulton, Sally; Collin, Suzanne; Ozaltin, Fatih; Servais, Aude; Deschênes, Georges; Novo, Robert; Bertholet-Thomas, Aurélia; Oh, Jun; Cornelissen, Elisabeth; Janssen, Mirian; Haffner, Dieter; Ravà, Lucilla; Antignac, Corinne; Devuyst, Olivier; Niaudet, Patrick; Levtchenko, Elena.

Kidney Int; 100(5): 1112-1123, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34237326

11.

Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis.

Veys, Koenraad R P; Elmonem, Mohamed A; Van Dyck, Maria; Janssen, Mirian C; Cornelissen, Elisabeth A M; Hohenfellner, Katharina; Prencipe, Giusi; van den Heuvel, Lambertus P; Levtchenko, Elena.

J Am Soc Nephrol; 31(5): 1092-1106, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32273301

12.

Management of bone disease in cystinosis: Statement from an international conference.

Hohenfellner, Katharina; Rauch, Frank; Ariceta, Gema; Awan, Atif; Bacchetta, Justine; Bergmann, Carsten; Bechtold, Susanne; Cassidy, Noelle; Deschenes, Geroges; Elenberg, Ewa; Gahl, William A; Greil, Oliver; Harms, Erik; Herzig, Nadine; Hoppe, Bernd; Koeppl, Christian; Lewis, Malcolm A; Levtchenko, Elena; Nesterova, Galina; Santos, Fernando; Schlingmann, Karl P; Servais, Aude; Soliman, Neveen A; Steidle, Guenther; Sweeney, Clodagh; Treikauskas, Ulrike; Topaloglu, Rezan; Tsygin, Alexey; Veys, Koenraad; V Vigier, Rodo; Zustin, Jozef; Haffner, Dieter.

J Inherit Metab Dis; 42(5): 1019-1029, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31177550

13.

Posterior segment involvement in Infantile Nephropathic Cystinosis A review.

Keidel, Leonie Franziska; Schworm, Benedikt; Hohenfellner, Katharina; Kruse, Franziska; Priglinger, Siegfried; Luft, Nikolaus; Priglinger, Claudia.

Klin Monbl Augenheilkd; 2023 Feb 03.

Artículo en Alemán | MEDLINE | ID: mdl-36736373

14.

Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis.

Pozza, Susanne Bechtold-Dalla; Lemster, Simon; Herzig, Nadine; Vill, Katharina; Dubinski, Ilja; Hohenfellner, Katharina.

J Bone Miner Res; 2024 Jun 12.

Artículo en Inglés | MEDLINE | ID: mdl-38864569

15.

Health-related quality of life and patient-reported outcome measurements in patients with cystinosis.

Witt, Stefanie; Kristensen, Kaja; Hohenfellner, Katharina; Quitmann, Julia.

JIMD Rep; 64(2): 199-211, 2023 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-36873093

16.

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis.

Keidel, Leonie; Hohenfellner, Katharina; Schworm, Benedikt; Priglinger, Siegfried; Luft, Nikolaus; Priglinger, Claudia.

Br J Ophthalmol; 107(2): 234-241, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-34531199

17.

Strict blood-pressure control and progression of renal failure in children.

Wühl, Elke; Trivelli, Antonella; Picca, Stefano; Litwin, Mieczyslaw; Peco-Antic, Amira; Zurowska, Aleksandra; Testa, Sara; Jankauskiene, Augustina; Emre, Sevinc; Caldas-Afonso, Alberto; Anarat, Ali; Niaudet, Patrick; Mir, Sevgi; Bakkaloglu, Aysin; Enke, Barbara; Montini, Giovanni; Wingen, Ann-Margret; Sallay, Peter; Jeck, Nikola; Berg, Ulla; Caliskan, Salim; Wygoda, Simone; Hohbach-Hohenfellner, Katharina; Dusek, Jiri; Urasinski, Tomasz; Arbeiter, Klaus; Neuhaus, Thomas; Gellermann, Jutta; Drozdz, Dorota; Fischbach, Michel; Möller, Kristina; Wigger, Marianne; Peruzzi, Licia; Mehls, Otto; Schaefer, Franz.

N Engl J Med; 361(17): 1639-50, 2009 Oct 22.

Artículo en Inglés | MEDLINE | ID: mdl-19846849

18.

Newborn Screening: Review of its Impact for Cystinosis.

Hohenfellner, Katharina; Elenberg, Ewa; Ariceta, Gema; Nesterova, Galina; Soliman, Neveen A; Topaloglu, Rezan.

Cells; 11(7)2022 03 25.

Artículo en Inglés | MEDLINE | ID: mdl-35406673

19.

Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study.

O'Connell, Nina; Oh, Jun; Arbeiter, Klaus; Büscher, Anja; Haffner, Dieter; Kaufeld, Jessica; Kurschat, Christine; Mache, Christoph; Müller, Dominik; Patzer, Ludwig; Weber, Lutz T; Tönshoff, Burkhard; Weitz, Marcus; Hohenfellner, Katharina; Pape, Lars.

Front Med (Lausanne); 9: 864554, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-35547226

20.

Establishing an objective biomarker for corneal cystinosis using a threshold-based Spectral domain optical coherence tomography imaging algorithm.

Keidel, Leonie; Elhardt, Carolin; Hohenfellner, Katharina; Priglinger, Siegfried; Schworm, Benedikt; Wertheimer, Christian; Priglinger, Claudia; Luft, Nikolaus.

Acta Ophthalmol; 99(2): e189-e195, 2021 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-32833325

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