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Pediatrics|October 14, 2020
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn ScreeningUlrike Mütze, Sven F Garbade, Gwendolyn Gramer, et al.Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.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 Clinical Immunology|August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell DeficiencyDominic Lenz, Jens Pahl, Fabian Hauck, et al.Annals of Neurology|April 18, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1Nikolas Boy, Katharina Mengler, Eva Thimm, et al.Scientific Reports|September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, 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.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.Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.Pageof 4