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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|March 7, 2014
Clinical presentation and outcome in a series of 88 patients with the cblC defectSabine Fischer, Martina Huemer, Matthias Baumgartner, 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|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, 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|October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortiumUlrike Mütze, Florian Gleich, Ivo Barić, 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|October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.Nature|October 19, 2022
More losses than gains during one century of plant biodiversity change in GermanyUte Jandt, Helge Bruelheide, Florian Jansen, et al.Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.Pageof 7