Publikationsliste einschränken

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• englisch (18)
• deutsch (1)

• Kölker, Stefan (18)
• Boy, Nikolas (17)
• Hoffmann, Georg F. (10)
• Harting, Inga (9)
• Burgard, Peter (8)
• Garbade, Sven (8)
• Haege, Gisela (6)

• Seitz, Angelika (6)
• Glahn, Esther M. (2)
• Assmann, Birgit (2)
• Müller, Edith (2)
• Mengler, Katharina (2)
• Bendszus, Martin (1)
• Lenz, Dominic (1)
• Posset, Roland (1)
• Kool, Marcel (1)
• Sahm, Katja (1)
• Okun, Jürgen G. (1)
• Opladen, Thomas (1)
• Mohr, Alexander (1)
• Staufner, Christian (1)

• Freisinger, Peter (2)
• Lindner, Martin (1)
• Zschocke, Johannes (1)
• Marquardt, Iris (1)
• Baumgartner, Matthias R. (1)
• Assmann, Birgit (1)
• Marquardt, Thorsten (1)

• Das, Anibh M. (1)
• Mühlhausen, Chris (1)
• Maier, Esther M. (1)
• Ensenauer, Regina (1)
• Lücke, Thomas (1)

Publikationen in heiBIB     

• Boy, Nikolas: Subdural hematoma in glutaric aciduria type 1 : high excreters are prone to incidental SDH despite newborn screening / Nikolas Boy, Alexander Mohr, Sven F. Garbade, Peter Freisinger, Jana Heringer-Seifert, Angelika Seit… , 2021
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 6, Seite 1343-1352$10
  DOI: 10.1002/jimd.12436
• Märtner, E.M. Charlotte: Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1 : a national prospective multi-centre study / E.M. Charlotte Märtner, Esther M. Maier, Katharina Mengler, Eva Thimm, Katharina A. Schiergens, Thor… , 2021. - 10 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 3, Seite 629-638
  DOI: 10.1002/jimd.12335
• Boy, Nikolas: Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1 : a meta-analysis / Nikolas Boy, MD, Katharina Mengler, MD, Jana Heringer-Seifert, MD, Georg F. Hoffmann, MD, Sven F. G… , 2021. - 9 S.
  In: Genetics in medicine, ISSN 1530-0366. 23(2021), 1, Seite 13-21
  DOI: 10.1038/s41436-020-00971-4
• Boy, Nikolas: Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1 / Nikolas Boy, Sven F. Garbade, Jana Heringer, Angelika Seitz, Stefan Kölker, Inga Harting, 11 February 2019. - 11 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 117-127
  DOI: 10.1002/jimd.12033
• Boy, Nikolas: Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1 / Nikolas Boy, Sven F. Garbade, Jana Heringer, Angelika Seitz, Stefan Kölker, Inga Harting, 11 February 2019. - 11 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 117-127
  DOI: 10.1002/jimd.12033
• Garbade, Sven: Age-related changes and reference values of bicaudate ratio and sagittal brainstem diameters on MRI / Sven F. Garbade, Nikolas Boy, Jana Heringer, Stefan Kölker, Inga Harting, 05. Juni 2018. - 7 S.
  In: Neuropediatrics, ISSN 1439-1899. 49(2018), 04, Seite 269-275
  DOI: 10.1055/s-0038-1660475
• Boy, Nikolas: Newborn screening : a disease-changing intervention for glutaric aciduria type 1 / Nikolas Boy, Katharina Mengler, Eva Thimm, Katharina A. Schiergens, Thorsten Marquardt, Natalie Wein… , 17 April 2018. - 10 S.
  In: Annals of neurology, ISSN 1531-8249. 83(2018), 5, Seite 970-979
  DOI: 10.1002/ana.25233
• Workshop for Pediatric Research <52., 2016, Frankfurt am Main>: Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016 / Rhea van den Bruck, Patrick P. Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Daniel Gö… , 10 May 2017. - 9 S.
  In: Molecular and Cellular Pediatrics, ISSN 2194-7791. 4(2017), Suppl. 1, Artikel-ID 5, Seite 1-9
  DOI: 10.1186/s40348-017-0071-0
• Boy, Nikolas: Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity / Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker and Inga H… , 24 April 2017
  In: Orphanet journal of rare diseases, ISSN 1750-1172. 12(2017) Artikel-Nummer 77, 13 Seiten
  DOI: 10.1186/s13023-017-0612-6
• Boy, Nikolas: Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity / Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker and Inga H… . -
  London: BioMed Central, 24 April 2017. - 1 Online-Ressource (13 Seiten)
  DOI: 10.1186/s13023-017-0612-6
• Boy, Nikolas: Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I : second revision / Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjor… , 2017. - 27 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 1, Seite 75-101
  DOI: 10.1007/s10545-016-9999-9
• Boy, Nikolas: A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I / Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Stefa… . -
  London: BioMed Central, 22 December 2015. - 1 Online-Ressource (12 Seiten)
  DOI: 10.1186/s13023-015-0379-6
• Heringer-Seifert, Jana: Impact of age at onset and newborn screening on outcome in organic acidurias / Jana Heringer, Vassili Valayannopoulos, Allan M. Lund, Frits A. Wijburg, Peter Freisinger, Ivo Barić… , 2016. - 13 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 3, Seite 341-353
  DOI: 10.1007/s10545-015-9907-8
• Harting, Inga: 1 H-MRS in glutaric aciduria type 1 : impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites / Inga Harting, Nikolas Boy, Jana Heringer, Angelika Seitz, Martin Bendszus, Petra J.W. Pouwels, Stefa… , September 2015. - 10 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 5, Seite 829-838
  DOI: 10.1007/s10545-015-9826-8
• Boy, Nikolas: A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I / Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Stefa… , 22 December 2015
  In: Orphanet journal of rare diseases, ISSN 1750-1172. 10(2015) Artikel-Nr. 163, 12 S.
  DOI: 10.1186/s13023-015-0379-6
• Kölker, Stefan: Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I : a decade of experience / Stefan Kölker, S. P. Nikolas Boy, Jana Heringer, Edith Müller, Esther M. Maier, Regina Ensenauer, Ch… , 2012. - 9 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 107(2012), 1, Seite 72-80
  DOI: 10.1016/j.ymgme.2012.03.021
• Boy, Nikolas: Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters / Nikolas Boy, Gisela Haege, Jana Heringer, Birgit Assmann, Chris Mühlhausen, Regina Ensenauer, Esther… , 2013. - 9 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 36(2013), 3, Seite 525-533
  DOI: 10.1007/s10545-012-9517-7
• Heringer-Seifert, Jana: Verbesserung des neurologischen Outcomes bei Kindern mit Glutarazidurie Typ 1 durch eine Leitlinien-konforme Therapie / vorgelegt von Jana Heringer, 2010 [ersch.] 2011. - 67 Bl. : Ill., graph. Darst.
• Heringer-Seifert, Jana: Use of guidelines improves the neurological outcome in glutaric aciduria type I / Jana Heringer, S. P. Nikolas Boy, Regina Ensenauer, Birgit Assmann, Johannes Zschocke, Inga Harting,… , [November 2010]. - 10 S. : Illustrationen
  In: Annals of neurology, ISSN 1531-8249. 68(2010), 5 vom: Nov., Seite 743-752
  DOI: 10.1002/ana.22095

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GND:	1014416353

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