@article{UBHD-67925106, author={Boy, Nikolas and Heringer-Seifert, Jana and Haege, Gisela and Hoffmann, Georg F. and K{\"o}lker, Stefan and Burgard, Peter}, title={A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I}, year={2015}, language={eng}, issn={1750-1172}, volume={10(2015) Artikel-Nr. 163}, number={12 S.}, note={Gesehen am 14.01.2016}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-015-0379-6}, url={http://dx.doi.org/10.1186/s13023-015-0379-6}, library={UB}, } @book{UBHD-67994938, author={Boy, Nikolas and Heringer-Seifert, Jana and Haege, Gisela and Glahn, Esther M. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Burgard, Peter}, title={A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I}, publisher={BioMed Central}, address={London}, year={2016}, pages={1 Online-Ressource (12 Seiten)}, language={eng}, note={Aus: Orphanet Journal of Rare Diseases, 10 (2015), Nr. 163. pp. 1-12. ISSN 1750-1172}, doi={10.1186/s13023-015-0379-6}, url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-200399}, library={UB}, } @article{UBHD-68114432, author={Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity}, year={2017}, language={eng}, issn={1750-1172}, volume={12(2017) Artikel-Nummer 77}, number={13 Seiten}, note={Gesehen am 281.04.2017}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-017-0612-6}, url={http://dx.doi.org/10.1186/s13023-017-0612-6}, library={UB}, } @book{UBHD-68113351, author={Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity}, publisher={BioMed Central}, address={London}, year={2017}, pages={1 Online-Ressource (13 Seiten)}, language={eng}, note={Aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 77. pp. 1-13. ISSN 1750-1172}, doi={10.1186/s13023-017-0612-6}, url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-228746}, library={UB}, } @article{UBHD-68794204, author={Boy, Nikolas and Mengler, Katharina and Heringer-Seifert, Jana and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan}, title={Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1}, subtitle={a meta-analysis}, year={2021}, pages={13-21}, language={eng}, issn={1530-0366}, volume={23}, number={1}, note={Published: 28 September 2020 ; Gesehen am 27.10.2021}, journal={Genetics in medicine}, doi={10.1038/s41436-020-00971-4}, url={https://doi.org/10.1038/s41436-020-00971-4}, library={UB}, } @article{UBHD-68257727, author={Boy, Nikolas and Haege, Gisela and Heringer-Seifert, Jana and Assmann, Birgit and Hoffmann, Georg F. and M{\"u}ller, Edith and Burgard, Peter and K{\"o}lker, Stefan}, title={Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters}, year={2013}, pages={525-533}, language={eng}, issn={1573-2665}, volume={36}, number={3}, note={First Online: 13 September 2012 ; Gesehen am 05.06.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-012-9517-7}, } @article{UBHD-68409703, author={Boy, Nikolas and Heringer-Seifert, Jana and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan}, title={Newborn screening}, subtitle={a disease-changing intervention for glutaric aciduria type 1}, year={2018}, pages={970-979}, language={eng}, issn={1531-8249}, volume={83}, number={5}, note={Gesehen am 18.07.2019}, journal={Annals of neurology}, doi={10.1002/ana.25233}, } @article{UBHD-68408602, author={Boy, Nikolas and Garbade, Sven and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1}, year={2019}, pages={117-127}, language={eng}, issn={1573-2665}, volume={42}, number={1}, note={Gesehen am 15.07.2019}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12033}, } @book{UBHD-68447579, author={Boy, Nikolas and Garbade, Sven and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1}, year={2019}, pages={117-127}, language={eng}, issn={1573-2665}, note={Gesehen am 29.10.2019}, doi={10.1002/jimd.12033}, } @article{UBHD-68257733, author={Boy, Nikolas and Heringer-Seifert, Jana and Assmann, Birgit and Burgard, Peter and Harting, Inga and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and Opladen, Thomas and Posset, Roland and Sahm, Katja and K{\"o}lker, Stefan}, title={Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I}, subtitle={second revision}, year={2017}, pages={75-101}, language={eng}, issn={1573-2665}, volume={40}, number={1}, note={Published online: 16 November 2016 ; Gesehen am 05.06.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-016-9999-9}, } @article{UBHD-69106990, author={Boy, Nikolas and Mohr, Alexander and Garbade, Sven and Freisinger, Peter and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Subdural hematoma in glutaric aciduria type 1}, subtitle={high excreters are prone to incidental SDH despite newborn screening}, year={2021}, pages={1343-1352$10}, language={eng}, issn={1573-2665}, volume={44}, number={6}, note={Gesehen am 07.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12436}, url={https://doi.org/10.1002/jimd.12436}, library={UB}, } @article{UBHD-68467201, author={Garbade, Sven and Boy, Nikolas and Heringer-Seifert, Jana and K{\"o}lker, Stefan and Harting, Inga}, title={Age-related changes and reference values of bicaudate ratio and sagittal brainstem diameters on MRI}, year={2018}, pages={269-275}, language={eng}, issn={1439-1899}, volume={49}, number={04}, note={Gesehen am 12.12.2019}, journal={Neuropediatrics}, doi={10.1055/s-0038-1660475}, } @article{UBHD-68068842, author={Harting, Inga and Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and Bendszus, Martin and K{\"o}lker, Stefan}, title={1 H-MRS in glutaric aciduria type 1}, subtitle={impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites}, year={2015}, pages={829-838}, language={eng}, issn={1573-2665}, volume={38}, number={5}, note={Gesehen am 03.01.2017 ; Im Titel ist "1" in 1 H-MRS hochgestellt}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9826-8}, } @article{UBHD-68443719, author={Heringer-Seifert, Jana and Burgard, Peter and K{\"o}lker, Stefan}, title={Impact of age at onset and newborn screening on outcome in organic acidurias}, year={2016}, pages={341-353}, language={eng}, issn={1573-2665}, volume={39}, number={3}, note={Published online: 21 December 2015 ; Gesehen am 22.10.2019}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9907-8}, } @article{UBHD-69069386, author={Heringer-Seifert, Jana and Boy, Nikolas and Ensenauer, Regina and Assmann, Birgit and Zschocke, Johannes and Harting, Inga and L{\"u}cke, Thomas and Maier, Esther M. and M{\"u}hlhausen, Chris and Haege, Gisela and Hoffmann, Georg F. and Burgard, Peter and K{\"o}lker, Stefan}, title={Use of guidelines improves the neurological outcome in glutaric aciduria type I}, year={2010}, pages={743-752}, language={eng}, issn={1531-8249}, volume={68}, number={5 vom: Nov.}, note={First published: 29 October 2010 ; Gesehen am 26.04.2023}, journal={Annals of neurology}, doi={10.1002/ana.22095}, } @book{UBHD-67079283, author={Heringer-Seifert, Jana}, title={Verbesserung des neurologischen Outcomes bei Kindern mit Glutarazidurie Typ 1 durch eine Leitlinien-konforme Therapie}, year={2011}, pages={67 Bl.}, language={ger}, school={Heidelberg, Univ., Diss., 2011}, library={UB [Signatur: 2011 U 628]}, } @article{UBHD-68326376, author={K{\"o}lker, Stefan and Boy, Nikolas and Heringer-Seifert, Jana and M{\"u}ller, Edith and Hoffmann, Georg F. and Haege, Gisela and Burgard, Peter}, title={Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I}, subtitle={a decade of experience}, year={2012}, pages={72-80}, language={eng}, issn={1096-7206}, volume={107}, number={1}, note={Gesehen am 08.11.2018}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2012.03.021}, } @article{UBHD-68807804, author={M{\"a}rtner, E.M. Charlotte and Maier, Esther M. and Mengler, Katharina and Thimm, Eva and Schiergens, Katharina A. and Marquardt, Thorsten and Santer, René and Weinhold, Natalie and Marquardt, Iris and Das, Anibh M. and Freisinger, Peter and Gr{\"u}nert, Sarah C. and Vossbeck, Judith and Steinfeld, Robert and Baumgartner, Matthias R. and Beblo, Skadi and Dieckmann, Andrea and N{\"a}ke, Andrea and Lindner, Martin and Heringer-Seifert, Jana and Lenz, Dominic and Hoffmann, Georg F. and M{\"u}hlhausen, Chris and Ensenauer, Regina and Garbade, Sven and K{\"o}lker, Stefan and Boy, Nikolas}, title={Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1}, subtitle={a national prospective multi-centre study}, year={2021}, pages={629-638}, language={eng}, issn={1573-2665}, volume={44}, number={3}, note={First published: 03 December 2020 ; Gesehen am 03.12.2021}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12335}, url={https://doi.org/10.1002/jimd.12335}, library={UB}, } @article{UBHD-68323639, author={Boy, Nikolas and Heringer-Seifert, Jana and Haege, Gisela and Glahn, Esther M. and Hoffmann, Georg F. and Garbade, Sven and Burgard, Peter and K{\"o}lker, Stefan and Staufner, Christian and Kool, Marcel}, organization={Workshop for Pediatric Research <52., 2016, Frankfurt am Main>}, title={Abstracts of the 52nd Workshop for Pediatric Research}, subtitle={Frankfurt, Germany. 27-28 October 2016}, year={2017}, pages={1-9}, language={eng}, issn={2194-7791}, volume={4}, journal={Molecular and Cellular Pediatrics}, doi={10.1186/s40348-017-0071-0}, }