Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation

por Odenwald, Birgit, Fischer, Aline, Röschinger, Wulf, Liebl, Bernhard, Schmidt, Heinrich, Nennstiel, Uta
Publicado 2021

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

por Lotz-Havla, Amelie S., Röschinger, Wulf, Schiergens, Katharina, Singer, Katharina, Karall, Daniela, Konstantopoulou, Vassiliki, Wortmann, Saskia B., Maier, Esther M.
Publicado 2018

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 1...

por Schiergens, Katharina A., Weiss, Katharina J., Röschinger, Wulf, Lotz-Havla, Amelie S., Schmitt, Joachim, Dalla Pozza, Robert, Ulrich, Sarah, Odenwald, Birgit, Kreuder, Joachim, Maier, Esther M.
Publicado 2021

Molecular based newborn screening in Germany: Follow-up for cystinosis

por Hohenfellner, Katharina, Bergmann, Carsten, Fleige, Tobias, Janzen, Nils, Burggraf, Siegfried, Olgemöller, Bernd, Gahl, William A., Czibere, Ludwig, Froschauer, Sonja, Röschinger, Wulf, Vill, Katharina, Harms, Erik, Nennstiel, Uta
Publicado 2019

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

por Schnabel, Elena, Kölker, Stefan, Gleich, Florian, Feyh, Patrik, Hörster, Friederike, Haas, Dorothea, Fang-Hoffmann, Junmin, Morath, Marina, Gramer, Gwendolyn, Röschinger, Wulf, Garbade, Sven F., Hoffmann, Georg F., Okun, Jürgen G., Mütze, Ulrike
Publicado 2023

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

por Spenger, Johannes, Maier, Esther M., Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A., Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B., Fingerhut, Ralph
Publicado 2021

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32

por Spenger, Johannes, Maier, Esther M., Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A., Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B., Fingerhut, Ralph
Publicado 2021

One Year of Newborn Screening for SMA – Results of a German Pilot Project

por Vill, Katharina, Kölbel, Heike, Schwartz, Oliver, Blaschek, Astrid, Olgemöller, Bernhard, Harms, Erik, Burggraf, Siegfried, Röschinger, Wulf, Durner, Jürgen, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Schara, Ulrike, Jensen, Beate, Becker, Marc, Hohenfellner, Katharina, Müller-Felber, Wolfgang
Publicado 2019

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?(1)

por Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, Kölbel, Heike
Publicado 2020

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

por Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jürgen, Eggermann, Katja, Olgemöller, Bernhard, Harms, Erik, Schara, Ulrike, Kölbel, Heike, Müller-Felber, Wolfgang
Publicado 2021

Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

por Müller-Felber, Wolfgang, Blaschek, Astrid, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Brockow, Inken, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Kölbel, Heike, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, von Moers, Arpad, Trollmann, Regina, Johannssen, Jessika, Ziegler, Andreas, Cirak, Sebahattin, Hahn, Andreas, von der Hagen, Maja, Weiss, Claudia, Schreiber, Gudrun, Flotats-Bastardas, Marina, Hartmann, Hans, Illsinger, Sabine, Pechmann, Astrid, Horber, Veronka, Kirschner, Jan, Köhler, Cornelia, Winter, Benedikt, Friese, Johannes, Vill, Katharina
Publicado 2023