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Journal of Inherited Metabolic Disease|February 12, 2019
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseasesRoland Posset, Sven F Garbade, Nikolas Boy, et al.Journal of Inherited Metabolic Disease|December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.Orphanet Journal of Rare Diseases|April 25, 2023
Transition for adolescents with a rare disease: results of a nationwide German projectCorinna Grasemann, Jakob Höppner, Peter Burgard, et al.Pediatric Research|April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyStefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.Journal of Inherited Metabolic Disease|September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuriaKarina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.Journal of Inherited Metabolic Disease|October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.Pageof 8