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Anzahl der Publikationen: 11
Zeitschriftenartikel
Lotz-Havla, Amelie S.; Weiß, Katharina J.; Schiergens, Katharina A.; Brunet, Theresa; Kohlhase, Jürgen; Regenauer-Vandewiele, Stephanie und Maier, Esther M.
(2021):
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
In: Orphanet journal of rare diseases, Bd. 16, Nr. 1, 215
[PDF, 1MB]
Lotz-Havla, Amelie S.; Weiß, Katharina J.; Schiergens, Katharina A.; Brunet, Theresa; Kohlhase, Jürgen; Regenauer-Vandewiele, Stephanie und Maier, Esther M.
(2021):
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 215
Maertner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Kraemer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Naeke, Andrea; Hoffmann, Georg F.; Muehlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Koelker, Stefan und Boy, Nikolas
(2021):
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
In: Scientific Reports, Bd. 11, Nr. 1, 19300
Muetze, Ulrike; Henze, Lucy; Gleich, Florian; Lindner, Martin; Gruenert, Sarah C.; Spiekerkoetter, Ute; Santer, Rene; Blessing, Holger; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arelin, Maria; Hennermann, Julia B.; Marquardt, Thorsten; Marquardt, Iris; Freisinger, Peter; Kraemer, Johannes; Dieckmann, Andrea; Weinhold, Natalie; Keller, Mareike; Walter, Magdalena; Schiergens, Katharina A.; Maier, Esther M.; Hoffmann, Georg F.; Garbade, Sven F. und Koelker, Stefan
(2021):
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 4: S. 857-870
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
Schiergens, Katharina A.; Weiß, Katharina J.; Dokoupil, Katharina; Fleissner, Sandra und Maier, Esther M.
(2020):
Ernährung bei angeborenen Stoffwechselerkrankungen — ein Spagat zwischen Genuss und Therapie.
In: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, Bd. 63, Nr. 7: S. 864-871
[PDF, 300kB]
Maertner, E. M. Charlotte; Maier, Esther M.; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Santer, Rene; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer-Seifert, Jana; Lenz, Dominic; Hoffmann, Georg F.; Muehlhausen, Chris; Ensenauer, Regina; Garbade, Sven F.; Koelker, Stefan und Boy, Nikolas
(2020):
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 3: S. 629-638
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
Boy, Nikolas; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer, Jana; Hoffmann, Georg F.; Muehlhausen, Chris; Maier, Esther M.; Ensenauer, Regina; Garbade, Sven F. und Koelker, Stefan
(2018):
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
In: Annals of Neurology, Bd. 83, Nr. 5: S. 970-979
Schiergens, Katharina A.; Staudigl, Michael; Borggraefe, Ingo und Maier, Esther M.
(2018):
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
In: Neuropediatrics, Bd. 49, Nr. 6: S. 363-368