@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-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-68580343, author={Burgard, Peter and K{\"o}lker, Stefan and Haege, Gisela and Lindner, Martin and Hoffmann, Georg F.}, title={Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years}, year={2016}, pages={219-229}, language={eng}, issn={1573-2665}, volume={39}, number={2}, note={First published: 03 December 2015 ; Gesehen am 25.05.2020}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9901-1}, } @article{UBHD-68259165, author={Burgard, Peter and Rupp, Kathrin and Lindner, Martin and Haege, Gisela and Hoffmann, Georg F.}, title={Newborn screening programmes in Europe}, subtitle={arguments and efforts regarding harmonization : Part 2 - From screening laboratory results to treatment, follow-up and quality assurance}, year={2012}, pages={613-625}, language={eng}, issn={1573-2665}, volume={35}, number={4}, note={First Online: 28 April 2012 ; Gesehen am 08.06.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-012-9484-z}, } @article{UBHD-68627131, author={Gramer, Gwendolyn and Haege, Gisela and Glahn, Esther M. and Hoffmann, Georg F. and Lindner, Martin and Burgard, Peter}, title={Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life}, year={2014}, pages={189-195}, language={eng}, issn={1573-2665}, volume={37}, number={2}, note={First published: 16 August 2013 ; Gesehen am 13.08.2020}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-013-9639-6}, } @article{UBHD-68622220, author={Gramer, Gwendolyn and Haege, Gisela and Langhans, Claus-Dieter and Schuhmann, Vera and Burgard, Peter and Hoffmann, Georg F.}, title={Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria}, year={2016}, pages={52-57}, language={eng}, issn={1532-2823}, volume={109}, note={Gesehen am 30.07.2020}, journal={Prostaglandins, leukotrienes and essential fatty acids}, doi={10.1016/j.plefa.2016.04.005}, } @article{UBHD-68639022, author={Gramer, Gwendolyn and Haege, Gisela and Fang-Hoffmann, Junmin and Hoffmann, Georg F. and Bartram, Claus R. and Hinderhofer, Katrin and Burgard, Peter and Lindner, Martin}, title={Medium-chain Acyl-CoA dehydrogenase deficiency}, subtitle={evaluation of genotype-phenotype correlation in patients detected by newborn screening}, year={2015}, pages={101-112}, language={eng}, issn={2192-8312}, volume={23}, note={Gesehen am 21.09.2020}, journal={JIMD reports}, doi={10.1007/8904_2015_439}, } @article{UBHD-68247088, author={Gramer, Gwendolyn and F{\"o}rl, Birgit and Springer, Christina and Weimer, Petra and Haege, Gisela and Mackensen, Friederike and M{\"u}ller, Edith and V{\"o}lcker, Hans Eberhard and Hoffmann, Georg F. and Lindner, Martin and Krastel, Hermann and Burgard, Peter}, title={Visual functions in phenylketonuria}, subtitle={evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses}, year={2013}, pages={1-7}, language={eng}, issn={1096-7206}, volume={108}, number={1}, note={Gesehen am 26.04.2018}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2012.10.021}, } @article{UBHD-67928865, author={Haas, Dorothea and Gan-Schreier, Hongying and Langhans, Claus-Dieter and Anninos, Alexandros and Haege, Gisela and Burgard, Peter and Schulze, Andreas and Hoffmann, Georg F. and Okun, J{\"u}rgen G.}, title={Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF}, year={2014}, pages={188-194}, language={eng}, issn={1879-0038}, volume={538}, number={1}, note={Gesehen am 22.01.2016}, journal={Gene}, doi={10.1016/j.gene.2014.01.019}, } @article{UBHD-68687313, author={Haas, Dorothea and Haege, Gisela and Hoffmann, Georg F. and Burgard, Peter}, title={Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome}, year={2013}, pages={1008-1011}, language={eng}, issn={1552-4833}, volume={161}, number={5}, note={Gesehen am 10.02.2021}, journal={American journal of medical genetics}, doi={10.1002/ajmg.a.35837}, } @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}, } @article{UBHD-68572302, author={Jamiolkowski, Dagmar and K{\"o}lker, Stefan and Glahn, Esther M. and Barić, Ivo and Zeman, Jiri and Baumgartner, Matthias R. and M{\"u}hlhausen, Chris and Garcia‐Cazorla, Angels and Gleich, Florian and Haege, Gisela and Burgard, Peter}, title={Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders}, year={2016}, pages={231-241}, language={eng}, issn={1573-2665}, volume={39}, number={2}, note={Published online: 27 August 2015 ; Gesehen am 30.04.2020}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9887-8}, } @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-68032810, author={K{\"o}lker, Stefan and Gleich, Florian and Haege, Gisela and Staufner, Christian and Burgard, Peter}, title={Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders}, subtitle={part 1 : the initial presentation}, year={2015}, pages={1155-1156}, language={eng}, issn={1573-2665}, volume={38}, number={6}, note={Gesehen am 27.09.2016}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9867-z}, } @article{UBHD-68032823, author={K{\"o}lker, Stefan and Boy, Nikolas and Burgard, Peter and Gleich, Florian and H{\"o}rster, Friederike and Haege, Gisela}, title={Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders}, subtitle={part 2 : the evolving clinical phenotype}, year={2015}, pages={1157-1158}, language={eng}, issn={1573-2665}, volume={38}, number={6}, note={Gesehen am 27.09.2016}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9868-y}, } @article{UBHD-68032790, author={K{\"o}lker, Stefan and Gleich, Florian and Haege, Gisela and Staufner, Christian and Burgard, Peter}, title={The phenotypic spectrum of organic acidurias and urea cycle disorders}, subtitle={part 1: the initial presentation}, year={2015}, pages={1041-1057}, language={eng}, issn={1573-2665}, volume={38}, number={6}, note={Gesehen am 27.09.2016}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9839-3}, } @article{UBHD-68032800, author={K{\"o}lker, Stefan and Boy, Nikolas and Burgard, Peter and Gleich, Florian and H{\"o}rster, Friederike and Haege, Gisela}, title={The phenotypic spectrum of organic acidurias and urea cycle disorders}, subtitle={part 2 : the evolving clinical phenotype}, year={2015}, pages={1059-1074}, language={eng}, issn={1573-2665}, volume={38}, number={6}, note={Gesehen am 27.09.2016}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9840-x}, } @article{UBHD-68964264, author={Lindner, Martin and Gramer, Gwendolyn and Haege, Gisela and Fang-Hoffmann, Junmin and Schwab, Karl O. and Tacke, Uta and Trefz, Friedrich K. and Mengel, Eugen and Wendel, Udo and Leichsenring, Michael and Burgard, Peter and Hoffmann, Georg F.}, title={Efficacy and outcome of expanded newborn screening for metabolic diseases}, subtitle={report of 10 years from South-West Germany}, year={2011}, pages={1-10}, language={eng}, issn={1750-1172}, volume={6}, number={Artikel-ID 44}, note={Gesehen am 14.09.2022}, journal={Orphanet journal of rare diseases}, doi={10.1186/1750-1172-6-44}, } @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}, } @article{UBHD-68299998, author={Zwickler, Tamaris and Haege, Gisela and Riderer, Alina and H{\"o}rster, Friederike and Hoffmann, Georg F. and Burgard, Peter and K{\"o}lker, Stefan}, title={Metabolic decompensation in methylmalonic aciduria}, subtitle={which biochemical parameters are discriminative?}, year={2012}, pages={797-806}, language={eng}, issn={1573-2665}, volume={35}, number={5}, note={Gesehen am 29.08.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-011-9426-1}, } @article{UBHD-67579286, author={Zwickler, Tamaris and Riderer, Alina and Haege, Gisela and Hoffmann, Georg F. and K{\"o}lker, Stefan and Burgard, Peter}, title={Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia}, year={2014}, pages={31-37}, language={eng}, issn={1573-2665}, volume={37}, number={1}, note={Gesehen am 08.05.2014}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-013-9621-3}, }