1. Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study. Issue 5 (6th April 2020) Authors: Gancheva, Sofiya; Caspari, Daria; Bierwagen, Alessandra; Jelenik, Tomas; Caprio, Sonia; Santoro, Nicola; Rothe, Maik; Markgraf, Daniel F.; Herebian, Diran; Hwang, Jong‐Hee; Öner‐Sieben, Soner; Mennenga, Jasmin; Pacini, Giovanni; Thimm, Eva; Schlune, Andrea; Meissner, Thomas; vom Dahl, Stephan; Kl... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 5(2020) Page Start: 981 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1. (11th January 2021) Authors: Sotiridou, Ellada; Hoermann, Henrike; Aftab, Sommayya; Dastamani, Antonia; Thimm, Eva; Doodson, Louise; Batzios, Spyros; Kummer, Sebastian; Shah, Pratik Journal: Endocrinology, diabetes & metabolism case reports Issue: (2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1. (11th January 2021) Authors: Sotiridou, Ellada; Hoermann, Henrike; Aftab, Sommayya; Dastamani, Antonia; Thimm, Eva; Doodson, Louise; Batzios, Spyros; Kummer, Sebastian; Shah, Pratik Journal: Endocrinology, diabetes & metabolism case reports Issue: (2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Health‐related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents. Issue 5 (8th January 2013) Authors: Thimm, Eva; Schmidt, Lisa Elena; Heldt, Katrin; Spiekerkoetter, Ute Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 5(2013) Page Start: 767 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
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. 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) ↗