1. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. Issue 2 (7th December 2015) Authors: Staufner, Christian; Lindner, Martin; Dionisi‐Vici, Carlo; Freisinger, Peter; Dobbelaere, Dries; Douillard, Claire; Makhseed, Nawal; Straub, Beate K.; Kahrizi, Kimia; Ballhausen, Diana; la Marca, Giancarlo; Kölker, Stefan; Haas, Dorothea; Hoffmann, Georg F.; Grünert, Sarah C.; Blom, Henk J. Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 2(2016) Page Start: 273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders. Issue 1 (26th September 2016) Authors: Barić, Ivo; Staufner, Christian; Augoustides‐Savvopoulou, Persephone; Chien, Yin‐Hsiu; Dobbelaere, Dries; Grünert, Sarah C.; Opladen, Thomas; Petković Ramadža, Danijela; Rakić, Bojana; Wedell, Anna; Blom, Henk J. Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Early Exchange Transfusion to Treat Neonates With Gestational Alloimmune Liver Disease: An 11-Year Cohort Study. Issue 4 (April 2020) Authors: Fischer, Hendrik S.; Staufner, Christian; Sallmon, Hannes; Henning, Stephan; Bührer, Christoph Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 70:Issue 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Issue 6 (16th June 2015) Authors: Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides‐Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic cause and prevalence of hydroxyprolinemia. Issue 5 (2nd May 2016) Authors: Staufner, Christian; Haack, Tobias B.; Feyh, Patrik; Gramer, Gwendolyn; Raga, Deepthi Ediga; Terrile, Caterina; Sauer, Sven; Okun, Jürgen G.; Fang‐Hoffmann, Junmin; Mayatepek, Ertan; Prokisch, Holger; Hoffmann, Georg F.; Kölker, Stefan Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 625 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020) Authors: Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,... Journal: Lancet neurology Issue: Volume 19:Issue 11(2020) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Issue 4 (13th January 2018) Authors: El‐Hattab, Ayman W.; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J.; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J.; Afqi, Manal; Saleh, Mohammed A. M.; Faqeih, Eissa A.; Alzaidan, Hamad I.; Alshenqiti, Abduljabbar; Flore, Leigh Anne;... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Physician's guide to the diagnosis, treatment, and follow‐up of inherited metabolic diseases: Editors: Nenad Blau, Marinus Duran, K. Michael Gibson and Carlo Dionisi‐Vici. Issue 4 (9th July 2014) Authors: Staufner, Christian; Peters, Verena Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 4(2014) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Proceedings of ESPGHAN Monothematic Conference 2020: "Acute Liver Failure in Children". Issue 3 (March 2022) Authors: Zellos, Aglaia; Debray, Dominique; Indolfi, Giuseppe; Czubkowski, Piotr; Samyn, Marianne; Hadzic, Nedim; Gupte, Girish; Fischler, Björn; Smets, Françoise; de Cléty, Stéphan Clément; Grenda, Ryszard; Mozer, Yael; Mancell, Sara; Jahnel, Jörg; Auzinger, Georg; Worth, Austen; Lisman, Ton; Staufner, C... Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 74:Issue 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗