Author Boy, Nikolas
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2018 | Journal Article
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Boy, N.; Mengler, K.; Thimm, E.; Schiergens, K. A.; Marquardt, T.; Weinhold, N. & Marquardt, I. et al. (2018)
Annals of Neurology, 83(5) pp. 970-979. DOI: https://doi.org/10.1002/ana.25233
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2020 | Journal Article
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Märtner, E. M. C.; Maier, E. M.; Mengler, K.; Thimm, E.; Schiergens, K. A.; Marquardt, T. & Santer, R. et al. (2020)
Journal of Inherited Metabolic Disease,. DOI: https://doi.org/10.1002/jimd.12335
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2021 | Journal Article |
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E. M. C.; Thimm, E.; Guder, P.; Schiergens, K. A.; Rutsch, F.; Roloff, S. & Marquardt, I. et al. (2021)
Scientific Reports, 11(1) art. 19300. DOI: https://doi.org/10.1038/s41598-021-98809-9
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2021 | Journal Article | Erratum
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E. M. C.; Thimm, E.; Guder, P.; Schiergens, K. A.; Rutsch, F.; Roloff, S. & Marquardt, I. et al. (2021)
Scientific Reports, 11(1). DOI: https://doi.org/10.1038/s41598-021-00137-5
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2022 | Journal Article
Impact of the SARS‐CoV ‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium
Mütze, U.; Gleich, F.; Barić, I.; Baumgartner, M.; Burlina, A.; Chapman, K. A. & Chien, Y. et al. (2022)
Journal of Inherited Metabolic Disease, art. jimd.12572. DOI: https://doi.org/10.1002/jimd.12572
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2022 | Journal Article |
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision
Boy, N.; Mühlhausen, C.; Maier, E. M.; Ballhausen, D.; Baumgartner, M. R.; Beblo, S. & Burgard, P. et al. (2022)
Journal of Inherited Metabolic Disease, art. jimd.12566. DOI: https://doi.org/10.1002/jimd.12566
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