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Anzahl der Publikationen: 5
Zeitschriftenartikel
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
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Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jürgen; Eggermann, Katja; Olgemoeller, Bernhard; Harms, Erik; Schara, Ulrike; Koelbel, Heike und Mueller-Felber, Wolfgang
(2021):
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 153
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
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