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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 9
2022
Hohenfellner, Katharina; Nießl, Christina; Haffner, Dieter; Oh, Jun; Okorn, Christine; Palm, Katja; Schlingmann, Karl-Peter; Wygoda, Simone und Gahl, William Allen
(2022):
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.
In: Molecular Genetics and Metabolism, Bd. 136, Nr. 4: S. 282-288
[PDF, 369kB]
Nießl, Christina; Boulesteix, Anne-Laure 
ORCID: https://orcid.org/0000-0002-2729-0947; 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; Vigier, Rodo O. von; Gahl, William Allen und Hohenfellner, Katharina
(2022):
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
In: Molecular Genetics and Metabolism, Bd. 136, Nr. 4: S. 268-273
ORCID: https://orcid.org/0000-0002-2729-0947; 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; Vigier, Rodo O. von; Gahl, William Allen und Hohenfellner, Katharina
(2022):
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
In: Molecular Genetics and Metabolism, Bd. 136, Nr. 4: S. 268-273
Vill, Katharina; Müller‐Felber, Wolfgang; Landfarth, Timotheus; Köppl, Christian; Herzig, Nadine; Knerr, Christine; Holla, Heike; Steidle, Günther; Harms, Erik und Hohenfellner, Katharina
(2022):
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients.
In: Journal of Inherited Metabolic Disease, Bd. 45, Nr. 2: S. 183-191
[PDF, 1MB]
2021
Keidel, Leonie ORCID: https://orcid.org/0000-0003-4144-5754; Hohenfellner, Katharina; Schworm, Benedikt; Priglinger, Siegfried; Luft, Nikolaus und Priglinger, Claudia
(2021):
Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis.
In: British Journal of Ophthalmology, Bd. 107, Nr. 2: S. 234-241
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-4144-5754; Hohenfellner, Katharina; Schworm, Benedikt; Priglinger, Siegfried; Luft, Nikolaus und Priglinger, Claudia
(2021):
Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis.
In: British Journal of Ophthalmology, Bd. 107, Nr. 2: S. 234-241
[PDF, 1MB]
2020
Czibere, Ludwig; Burggraf, Siegfried; Fleige, Tobias; Glueck, Birgit; Keitel, Lisa Marie; Landt, Olfert; Durner, Jürgen; Roeschinger, Wulf; Hohenfellner, Katharina; Wirth, Brunhilde; Müller-Felber, Wolfgang; Vill, Katharina und Becker, Marc
(2020):
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
In: European Journal of Human Genetics, Bd. 28, Nr. 1: S. 23-30
Fleige, Tobias; Burggraf, Siegfried; Czibere, Ludwig; Haring, Julia; Glueck, Birgit; Keitel, Lisa Marie; Landt, Olfert; Harms, Erik; Hohenfellner, Katharina; Durner, Jürgen; Roeschinger, Wulf und Becker, Marc
(2020):
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
In: European Journal of Human Genetics, Bd. 28, Nr. 2: S. 193-201
Keidel, Leonie; Elhardt, Carolin; Hohenfellner, Katharina; Priglinger, Siegfried; Schworm, Benedikt; Wertheimer, Christian; Priglinger, Claudia und Luft, Nikolaus
(2020):
Establishing an objective biomarker for corneal cystinosis using a threshold-based Spectral domain optical coherence tomography imaging algorithm.
In: Acta Ophthalmologica, Bd. 99, Nr. 2, E189-E195
[PDF, 901kB]
2019
Hohenfellner, Katharina; Bergmann, Carsten; Fleige, Tobias; Janzen, Nils; Burggraf, Siegfried; Olgemoeller, Bernd; Gahl, William A.; Czibere, Ludwig; Froschauer, Sonja; Roeschinger, Wulf; Vill, Katharina; Harms, Erik und Nennstiel, Uta
(2019):
Molecular based newborn screening in Germany: Follow-up for cystinosis.
In: Molecular Genetics and Metabolism Reports, Bd. 21, 100514
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; Köppl, 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; Vigier, Rodo von; Zustin, Jozef und Haffner, Dieter
(2019):
Management of bone disease in cystinosis: Statement from an international conference.
In: Journal of Inherited Metabolic Disease, Bd. 42, Nr. 5: S. 1019-1029