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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.Journal of Inherited Metabolic Disease|August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samplesEsther M Maier, Ulrike Mütze, Nils Janzen, et al.The Journal of Experimental Medicine|November 12, 2017
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defectsMaria A Rujano, Magda Cannata Serio, Ganna Panasyuk, et al.Brain : a Journal of Neurology|September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onsetNazanin Mirza-Schreiber, Michael Zech, Rory Wilson, 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.Human Mutation|July 13, 2006
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentSonja C Stadler, Roman Polanetz, Esther M Maier, 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|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.Pageof 7