1. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013. Issue 1 (December 2016) Authors: Unsinn, Caroline; Das, Anibh; Valayannopoulos, Vassili; Thimm, Eva; Beblo, Skadi; Burlina, Alberto; Konstantopoulou, Vassiliki; Mayorandan, Sebene; de Lonlay, Pascale; Rennecke, Jörg; Derbinski, Jens; Hoffmann, Georg; Häberle, Johannes Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders. Issue 1 (19th June 2013) Authors: Rüegger, Corinne M.; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R.; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M.; Grünert, Sarah C.; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H.; Lotz‐Havla, Amelie; Mösli... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 1(2014) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study. Issue 3 (15th December 2020) Authors: Märtner, E. M. Charlotte; Maier, Esther M.; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Santer, René; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Grünert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, S... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 3(2021) Page Start: 629 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗
6. Newborn screening: A disease‐changing intervention for glutaric aciduria type 1. Issue 5 (30th April 2018) Authors: Boy, Nikolas; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Grünert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Näke, Andrea; Lindn... Journal: Annals of neurology Issue: Volume 83:Issue 5(2018) Page Start: 970 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Psychological well‐being of early and continuously treated phenylketonuria patients. Issue 1 (21st February 2021) Authors: Thiele, Alena Gerlinde; Spieß, Nicole; Ascherl, Rudolf; Arelin, Maria; Rohde, Carmen; Kiess, Wieland; Beblo, Skadi Journal: JIMD reports Issue: Volume 59:Issue 1(2021) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ten years of specialized adult care for phenylketonuria – a single-centre experience. Issue 1 (December 2016) Authors: Mütze, Ulrike; Thiele, Alena; Baerwald, Christoph; Ceglarek, Uta; Kiess, Wieland; Beblo, Skadi Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗