1. Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS). (January 2021) Authors: Sonnek, Benedikt; Döring, Jan Henje; Mütze, Ulrike; Schubert-Bast, Susanne; Bast, Thomas; Balke, Doreen; Reuner, Gitta; Schuler, Elisabeth; Klabunde-Cherwon, Annick; Hoffmann, Georg F.; Kölker, Stefan; Syrbe, Steffen Journal: European journal of paediatric neurology Issue: Volume 30(2021) Page Start: 121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. How longitudinal observational studies can guide screening strategy for rare diseases. Issue 5 (10th May 2022) Authors: Mütze, Ulrike; Mengler, Katharina; Boy, Nikolas; Gleich, Florian; Opladen, Thomas; Garbade, Sven F.; Kölker, Stefan Other Names: Bhattacharya Kaustuv guestEditor. Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 5(2022) Page Start: 889 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria. Issue 6 (22nd August 2022) Authors: Grohmann‐Held, Karina; Burgard, Peter; Baerwald, Christoph G. O.; Beblo, Skadi; vom Dahl, Stephan; Das, Anibh; Dokoupil, Katharina; Fleissner, Sandra; Freisinger, Peter; Heddrich‐Ellerbrok, Margret; Jung, Alexandra; Korpel, Vanessa; Krämer, Johannes; Lier, Dinah; Maier, Esther M.; Meyer, Uta; Müh... Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 6(2022) Page Start: 1070 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium. Issue 2 (14th November 2022) Authors: Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Cortès‐Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Li... Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 2(2023) Page Start: 220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Jean‐Marie Saudubray, Matthias R. Baumgartner, John Walter (Eds.). Inborn metabolic diseases: diagnosis and treatment: 2016, 658 pp (ISBN 978‐3‐66249771‐5). Issue 1 (12th December 2016) Authors: Mütze, Ulrike Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening. Issue 1 (4th October 2022) Authors: Mütze, Ulrike; Garbade, Sven F.; Gleich, Florian; Lindner, Martin; Freisinger, Peter; Hennermann, Julia B.; Thimm, Eva; Gramer, Gwendolyn; Posset, Roland; Krämer, Johannes; Grünert, Sarah C.; Hoffmann, Georg F.; Kölker, Stefan Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 1(2023) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany. Issue 1 (28th October 2022) Authors: Murko, Simona; Aseman, Asra Dadkhah; Reinhardt, Friederike; Gramer, Gwendolyn; Okun, Jürgen Günther; Mütze, Ulrike; Santer, René Journal: JIMD reports Issue: Volume 64:Issue 1(2023) Page Start: 114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria. Issue 4 (7th February 2021) Authors: Mütze, Ulrike; Henze, Lucy; Gleich, Florian; Lindner, Martin; Grünert, Sarah C.; Spiekerkoetter, Ute; Santer, René; Blessing, Holger; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arélin, Maria; Hennermann, Julia B.; Marquardt, Thorsten; Marquardt, Iris; Freisinger, Peter; Krämer... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 857 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review. Issue 3 (23rd March 2022) Authors: Zaunseder, Elaine; Haupt, Saskia; Mütze, Ulrike; Garbade, Sven F.; Kölker, Stefan; Heuveline, Vincent Journal: JIMD reports Issue: Volume 63:Issue 3(2022) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Organic acidurias in adults: late complications and management. Issue 5 (15th January 2018) Authors: Tuncel, Ali Tunç; Boy, Nikolas; Morath, Marina A.; Hörster, Friederike; Mütze, Ulrike; Kölker, Stefan Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 5(2018) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗