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Nutrients|January 5, 2021
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical OutcomeFriederike Bärhold, Uta Meyer, Anne-Kathrin Neugebauer, et al.Pediatrics|July 3, 2024
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn ScreeningKatharina Mengler, Sven F Garbade, Florian Gleich, et al.Journal of Inherited Metabolic Disease|January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduriaUlrike Mütze, Lucy Henze, Florian Gleich, et al.Annals of Clinical and Translational Neurology|January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disordersUlrike Mütze, Alina Ottenberger, Florian Gleich, et al.Journal of Inherited Metabolic Disease|December 4, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre studyE M Charlotte Märtner, Esther M Maier, Katharina Mengler, 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.American Journal of Human Genetics|June 25, 2019
De Novo Variants in TAOK1 Cause Neurodevelopmental DisordersMarija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, et al.Orphanet Journal of Rare Diseases|January 12, 2013
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah C Grünert, Stephanie Müllerleile, Linda De Silva, 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.American Journal of Human Genetics|October 15, 2013
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4Gordon J Hildick-Smith, Jeffrey D Cooney, Caterina Garone, et al.Pageof 6