Author Boy, Nikolas

1 to 6 of 6 Items
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 

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