@article{UBHD-69102645, author={Gan-Schreier, Hongying and Kebbewar, Moustafa and Fang-Hoffmann, Junmin and Wilrich, Julia and Abdoh, Ghassan and Ben-Omran, Tawfeg and Shahbek, Noora and Bener, Abdulbari and Al Rifai, Hilal and Al Khal, Abdul Latif and Lindner, Martin and Zschocke, Johannes and Hoffmann, Georg F.}, title={Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards}, year={2010}, pages={427-432}, language={eng}, issn={1097-6833}, volume={156}, number={3 vom: M{\"a}rz}, note={Online ver{\"o}ffentlicht am 14. November 2009 ; Gesehen am 31.07.2023}, journal={The journal of pediatrics}, doi={10.1016/j.jpeds.2009.09.054}, } @article{UBHD-68389969, author={Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Klinke, Glynis and Monostori, Péter and Okun, J{\"u}rgen G. and Hoffmann, Georg F.}, title={High incidence of maternal vitamin B12 deficiency detected by newborn screening}, subtitle={first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel}, year={2018}, pages={470-481}, language={eng}, issn={1867-0687}, volume={14}, number={5}, note={Gesehen am 15.05.2019 ; Im Titel ist die Zahl "12" tiefgestellt}, journal={World journal of pediatrics}, doi={10.1007/s12519-018-0159-1}, } @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-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-68247450, author={Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Hoffmann, Georg F. and Okun, J{\"u}rgen G.}, title={Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany}, year={2017}, pages={136-143}, language={eng}, issn={1867-0687}, volume={13}, number={2}, note={Gesehen am 27.04.2018}, journal={World journal of pediatrics}, doi={10.1007/s12519-017-0003-z}, } @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-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-69132102, author={Maier, Esther M. and M{\"u}tze, Ulrike and Janzen, Nils and Steuerwald, Ulrike and Nennstiel-Ratzel, Uta and Odenwald, Birgit and Schuhmann, Elfriede and Lotz-Havla, Amelie S. and Weiss, Katharina J. and Hammersen, Johanna and Weigel, Corina and Thimm, Eva and Gr{\"u}nert, Sarah and Hennermann, Julia B. and Freisinger, Peter and Kr{\"a}mer, Johannes and Das, Anibh M. and Illsinger, Sabine and Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Garbade, Sven and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and R{\"o}schinger, Wulf}, title={Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples}, year={2023}, pages={1-20}, language={eng}, issn={1573-2665}, note={Vor der Ver{\"o}ffentlichung im Heft online ver{\"o}ffentlicht: 21. August 2023 ; Gesehen am 20.10.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12671}, } @article{UBHD-68784520, author={M{\"u}tze, Ulrike and Walter, Magdalena and Keller, Mareike and Gramer, Gwendolyn and Garbade, Sven and Gleich, Florian and Haas, Dorothea and Posset, Roland and Gr{\"u}nert, Sarah C. and Hennermann, Julia B. and Thimm, Eva and Fang-Hoffmann, Junmin and Syrbe, Steffen and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan}, title={Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated}, year={2021}, pages={42-48}, language={eng}, issn={1097-6833}, volume={235(2021) vom: Aug.}, note={Im Titel ist die Zahl 12 tiefgestellt ; Gesehen am 29.09.2021}, journal={The journal of pediatrics}, doi={10.1016/j.jpeds.2021.02.009}, } @article{UBHD-68679973, author={M{\"u}tze, Ulrike and Garbade, Sven and Gramer, Gwendolyn and Lindner, Martin and Freisinger, Peter and Gr{\"u}nert, Sarah and Hennermann, Julia and Ensenauer, Regina and Thimm, Eva and Zirnbauer, Judith and Leichsenring, Michael and Gleich, Florian and H{\"o}rster, Friederike and Grohmann-Held, Karina and Boy, Nikolas and Fang-Hoffmann, Junmin and Burgard, Peter and Walter, Magdalena and Hoffmann, Georg F. and K{\"o}lker, Stefan}, title={Long-term outcomes of individuals with metabolic diseases identified through newborn screening}, year={2020}, pages={11 S.}, language={eng}, issn={1098-4275}, volume={146(2020}, note={Gesehen am 14.01.2020}, journal={Pediatrics}, doi={10.1542/peds.2020-0444}, } @article{UBHD-68901311, author={Peters, Verena and Penzien, J. M. and Reiter, G. and K{\"o}rner, C. and Hackler, R. and Assmann, Birgit and Fang-Hoffmann, Junmin and Schaefer, J. R. and Hoffmann, Georg F. and Heidemann, P. H.}, title={Congenital disorder of Glycosylation IId (CDG-IId) - a new entity}, subtitle={clinical presentation with Dandy-Walker malformation and myopathy}, year={2002}, pages={27-32}, language={eng}, issn={1439-1899}, volume={33}, number={01}, note={Gesehen am 30.03.2022}, journal={Neuropediatrics}, doi={10.1055/s-2002-23597}, } @article{UBHD-68675527, author={Peters, Verena and Fang-Hoffmann, Junmin and Hoffmann, Georg F.}, title={Genetisch bedingte Erkrankungen der Glykoproteinbiosynthese}, year={2003}, pages={156-163}, language={ger}, issn={1619-3873}, volume={2}, journal={Neurop{\"a}diatrie in Klinik und Praxis}, } @article{UBHD-68902208, author={Prietsch, Viola and Peters, Verena and Hackler, R. and Jakobi, R. and Assmann, Birgit and Fang-Hoffmann, Junmin and K{\"o}rner, Christian and Helwig-Rolig, Angelika and Schaefer, J. R. and Hoffmann, Georg F.}, title={A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy}, year={2002}, pages={126-130}, language={eng}, issn={1573-2665}, volume={25}, number={2}, note={Gesehen am 31.03.2022}, journal={Journal of inherited metabolic disease}, doi={10.1023/A:1015628810892}, } @article{UBHD-69124833, author={Schnabel-Besson, Elena and K{\"o}lker, Stefan and Gleich, Florian and Feyh, Patrik and H{\"o}rster, Friederike and Haas, Dorothea and Fang-Hoffmann, Junmin and Morath, Marina and Gramer, Gwendolyn and R{\"o}schinger, Wulf and Garbade, Sven and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and M{\"u}tze, Ulrike}, title={Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria}, year={2023}, pages={1-15}, language={eng}, issn={2072-6643}, volume={15}, note={Ver{\"o}ffentlicht: 28. Juli 2023 ; Gesehen am 27.09.2023}, journal={Nutrients}, doi={10.3390/nu15153355}, } @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}, }