|
Eine Ebene nach oben |
Gruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 10
Zeitschriftenartikel
Schwartz, Oliver; Koelbel, Heike; Blaschek, Astrid; Glaeser, Dieter; Burggraf, Siegfried; Roeschinger, Wulf; Schara, Ulrike; Mueller-Felber, Wolfgang und Vill, Katharina
(2022):
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 3: S. 389-396
Koelbel, Heike; Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Nennstiel, Uta; Schara-Schmidt, Ulrike; Hoffmann, Georg F.; Glaeser, Dieter; Roeschinger, Wulf; Bernert, Guenther; Klein, Andrea und Mueller-Felber, Wolfgang
(2021):
Neugeborenenscreeningprogramm für die spinale Muskelatrophie.
In: Nervenarzt, Bd. 93, Nr. 2: S. 135-141
Schiergens, Katharina A.; Weiss, Katharina J.; Roeschinger, Wulf; Lotz-Havla, Amelie S.; Schmitt, Joachim; Dalla Pozza, Robert; Ulrich, Sarah; Odenwald, Birgit; Kreuder, Joachim und Maier, Esther M.
(2021):
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 19 1/2 years of experience.
In: Molecular Genetics and Metabolism Reports, Bd. 28, 100776
Spenger, Johannes; Maier, Esther M.; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A.; Konstantopoulou, Vassiliki; Roeschinger, Wulf; Haberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B. und Fingerhut, Ralph
(2021):
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
In: International Journal of Neonatal Screening, Bd. 7, Nr. 2, 32
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
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
Weiss, Katharina J.; Roeschinger, Wulf; Blessing, Holger; Lotz-Havla, Amelie S.; Schiergens, Katharina A. und Maier, Esther M.
(2020):
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
In: Annals of Nutrition and Metabolism, Bd. 76, Nr. 4: S. 268-276
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
Welters, Alena; Roeschinger, Wulf; Franzel, Julia; Sabir, Hemmen; Mayatepek, Ertan; Meissner, Thomas und Kummer, Sebastian
(2016):
False-Positive Increases of Steroid Hormone Precursors Mimicking 11 beta-Hydroxylase-Deficiency in a Preterm Infant.
In: Hormone Research in Paediatrics, Bd. 86: S. 146