1. 1H‐MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. Issue 5 (10th April 2015) Authors: Harting, Inga; Boy, Nikolas; Heringer, Jana; Seitz, Angelika; Bendszus, Martin; Pouwels, Petra J.W.; Kölker, Stefan Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 829 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I. Issue 1 (December 2015) Authors: Boy, Nikolas; Heringer, Jana; Haege, Gisela; Glahn, Esther; Hoffmann, Georg; Garbade, Sven; Kölker, Stefan; Burgard, Peter Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Georg F. Hoffmann and Nenad Blau (eds): Congenital Neurotransmitter Disorders: A Clinical Approach: ISBN: 978‐1‐63463‐071‐9. Issue 3 (15th May 2015) Authors: Boy, Nikolas; Peters, Verena Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 3(2015) Page Start: 587 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗
6. 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) ↗
7. Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow‐up parameters. Issue 3 (13th September 2012) Authors: Boy, Nikolas; Haege, Gisela; Heringer, Jana; Assmann, Birgit; Mühlhausen, Chris; Ensenauer, Regina; Maier, Esther M.; Lücke, Thomas; Hoffmann, Georg F.; Müller, Edith; Burgard, Peter; Kölker, Stefan Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 3(2013) Page Start: 525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. 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) ↗
10. Patterns, evolution, and severity of striatal injury in insidious‐ vs acute‐onset glutaric aciduria type 1. Issue 1 (11th February 2019) Authors: Boy, Nikolas; Garbade, Sven F.; Heringer, Jana; Seitz, Angelika; Kölker, Stefan; Harting, Inga Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗