@article{UBHD-68583843, author={Brennenstuhl, Heiko and Kohlm{\"u}ller, Dirk and Gramer, Gwendolyn and Garbade, Sven and Syrbe, Steffen and Feyh, Patrik and K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Opladen, Thomas}, title={High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots}, year={2020}, pages={602-610}, language={eng}, issn={1573-2665}, volume={43}, number={3}, note={First published: 18 December 2019 ; Gesehen am 04.06.2020}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12208}, url={https://doi.org/10.1002/jimd.12208}, library={UB}, } @article{UBHD-68685106, author={Brennenstuhl, Heiko and Garbade, Sven and Okun, J{\"u}rgen G. and Feyh, Patrik and Hoffmann, Georg F. and Langhans, Claus-Dieter and Opladen, Thomas}, title={Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency}, year={2020}, pages={163-170}, language={eng}, issn={1096-7206}, volume={131}, number={1/2}, note={Gesehen am 28.01.2021}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2020.07.001}, } @article{UBHD-68805242, author={Gramer, Gwendolyn and Brockow, Inken and Labitzke, Christiane and Fang-Hoffmann, Junmin and Beivers, Andreas and Feyh, Patrik and Hoffmann, Georg F. and Nennstiel-Ratzel, Uta and Sommerburg, Olaf}, title={Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis}, subtitle={implications for process quality and patient care}, year={2021}, pages={1145-1155}, language={ger}, issn={1432-1076}, volume={180}, number={4}, note={Published: 26 October 2020 ; Gesehen am 25.11.2021}, journal={European journal of pediatrics}, doi={10.1007/s00431-020-03849-4}, url={https://doi.org/10.1007/s00431-020-03849-4}, library={UB}, } @article{UBHD-68574658, author={Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Feyh, Patrik and Klinke, Glynis and Monostori, Péter and M{\"u}tze, Ulrike and Posset, Roland and Weiss, Karl Heinz and Hoffmann, Georg F. and Okun, J{\"u}rgen G.}, title={Newborn screening for vitamin B12 deficiency in Germany}, subtitle={strategies, results, and public health implications}, year={2020}, pages={12 S.}, language={eng}, issn={1097-6833}, volume={216(2020) Artikel-Nummer 165-172.e4}, number={12 Seiten}, note={Im Titel ist die Zahl "12" tiefgestellt ; Available online 8 October 2019 ; Gesehen am 07.05.2020}, journal={The journal of pediatrics}, doi={10.1016/j.jpeds.2019.07.052}, } @article{UBHD-68990245, author={Reischl-Hajiabadi, Anna Theresa and Garbade, Sven and Feyh, Patrik and Weiss, Karl Heinz and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Hoffmann, Georg F. and Gramer, Gwendolyn}, title={Maternal vitamin B12 deficiency detected by newborn screening}, subtitle={evaluation of causes and characteristics}, year={2022}, pages={1-17}, language={eng}, issn={2072-6643}, volume={14}, note={Im Titel erscheint die Ziffer 12 tiefgestellt ; Gesehen am 29.11.2022}, journal={Nutrients}, doi={10.3390/nu14183767}, } @article{UBHD-68220706, author={Staufner, Christian and Feyh, Patrik and Gramer, Gwendolyn and Ediga, Raga and Sauer, Sven and Okun, J{\"u}rgen G. and Fang-Hoffmann, Junmin and Hoffmann, Georg F. and K{\"o}lker, Stefan}, title={Genetic cause and prevalence of hydroxyprolinemia}, year={2016}, pages={625-632}, language={eng}, issn={1573-2665}, volume={39}, number={5}, note={Gesehen am 15.02.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-016-9940-2}, } @article{UBHD-69094410, author={Tesorero, Rafael and Janda, Joachim and H{\"o}rster, Friederike and Feyh, Patrik and M{\"u}tze, Ulrike and Hauke, Jana and Schwarz, Kathrin and Kunz, Joachim and Hoffmann, Georg F. and Okun, J{\"u}rgen G.}, title={A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry}, year={2023}, pages={1-16}, language={eng}, issn={1932-6203}, volume={18}, note={Gesehen am 07.07.2023}, journal={PLOS ONE}, doi={10.1371/journal.pone.0283024}, }