@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-68572630,
  author={Cannet, Claire and Pilotto, Andrea and Rocha, Júlio César and Sch{\"a}fer, Hartmut and Spraul, Manfred and Berg, Daniela and Nawroth, Peter Paul and Kasperk, Christian and Gramer, Gwendolyn and Haas, Dorothea and Piel, David and K{\"o}lker, Stefan and Hoffmann, Georg F. and Freisinger, Peter and Trefz, Friedrich K.},
  title={Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls},
  subtitle={results of NMR metabolomics investigation},
  year={2020},
  pages={1-7},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 61},
  note={Gesehen am 04.05.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-1329-5},
}
@article{UBHD-68379582,
  author={Chapman, Kimberly A. and Gramer, Gwendolyn},
  title={Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data},
  year={2018},
  pages={106-109},
  language={eng},
  issn={2214-4269},
  volume={15},
  note={Available online 5 April 2018 ; Gesehen am 10.04.2019},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2018.03.011},
}
@article{UBHD-68247139,
  author={Gramer, Eugen and Reiter, Constantin Wei-te Caspar and Gramer, Gwendolyn},
  title={Glaucoma and frequency of ocular and general diseases in 30 patients with Aniridia},
  subtitle={a clinical study},
  year={2012},
  pages={104-110},
  language={eng},
  issn={1724-6016},
  volume={22},
  number={1},
  note={Gesehen am 26.04.2017},
  journal={European journal of ophthalmology},
  doi={10.5301/EJO.2011.8318},
}
@article{UBHD-68389964,
  author={Gramer, Gwendolyn and Nennstiel-Ratzel, Uta and Hoffmann, Georg F.},
  title={50 Jahre Neugeborenenscreening in Deutschland},
  subtitle={Bisherige Ergebnisse und zuk{\"u}nftige Herausforderungen},
  year={2018},
  pages={987-993},
  language={ger},
  issn={1433-0474},
  volume={166},
  number={11},
  note={First Online: 07 August 2017 ; Gesehen am 15.05.2019},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-017-0355-4},
}
@book{UBHD-67824572,
  author={Gramer, Gwendolyn},
  title={Diagnostik, Therapie und Langzeitentwicklung von Patienten mit angeborenen Stoffwechselst{\"o}rungen unter besonderer Ber{\"u}cksichtigung des Neugeborenenscreenings},
  year={2015},
  pages={Getr. Z{\"a}hlung},
  language={ger},
  note={Enth. Sonderabdr. - Beitr. engl.},
  school={Heidelberg, Univ., Habil.-Schr., 2015},
  library={UB [Signatur: 2015 U 473]},
}
@article{UBHD-67995052,
  author={Gramer, Gwendolyn and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Erratum zu: Metabolische Notfalltherapie},
  year={2014},
  pages={155-155},
  language={ger},
  issn={1433-0474},
  volume={162},
  number={2},
  note={Gesehen am 13.06.2016},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-013-3065-6},
}
@article{UBHD-68389673,
  author={Gramer, Gwendolyn and Hoffmann, Georg F.},
  title={Fr{\"u}herkennung eines Vitamin-B12-Mangels im Neugeborenenscreening},
  year={2018},
  pages={152-153},
  language={ger},
  issn={1433-0474},
  volume={166},
  number={2},
  note={Gesehen am 14.05.2019 ; Im Titel ist die Zahl "12" tiefgestellt},
  journal={Monatsschrift Kinderheilkunde},
}
@article{UBHD-68379888,
  author={Gramer, Gwendolyn and Wolf, Nicole and Vater, Daniel and Bast, Thomas and Santer, René and Kamsteeg, Erik-Jan and Wevers, Ron A. and Ebinger, Friedrich},
  title={Glucose transporter-1 (GLUT1) deficiency syndrome},
  subtitle={diagnosis and treatment in late childhood},
  year={2012},
  pages={168-171},
  language={eng},
  issn={0174-304X},
  volume={43},
  number={3 vom: 19. Juni},
  journal={Neuropediatrics},
}
@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-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-68767653,
  author={Gramer, Gwendolyn and Hoffmann, Georg F. and Hennermann, Julia B.},
  title={Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening},
  year={2021},
  pages={1-6},
  language={eng},
  issn={2214-4269},
  volume={27},
  number={Artikel-ID 100738},
  note={Gesehen am 06.08.2021},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2021.100738},
}
@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-67995050,
  author={Gramer, Gwendolyn and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Metabolische Notfalltherapie},
  subtitle={Praktische Umsetzung im klinischen Alltag},
  year={2013},
  pages={645-660},
  language={ger and eng},
  issn={1433-0474},
  volume={161},
  number={7},
  note={Gesehen am 13.06.2016},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112­013­2939­y},
}
@article{UBHD-68637081,
  author={Gramer, Gwendolyn and Weber, Bernhard H. F. and Gramer, Eugen},
  title={Migraine and vasospasm in glaucoma},
  subtitle={age-related evaluation of 2027 patients with glaucoma or ocular hypertension},
  year={2015},
  pages={7999-8007},
  language={eng},
  issn={1552-5783},
  volume={56},
  number={13},
  note={Accepted: October 25, 2015 ; Gesehen am 14.09.2020},
  journal={Investigative ophthalmology & visual science},
  doi={10.1167/iovs.15-17274},
}
@article{UBHD-68247150,
  author={Gramer, Gwendolyn and Sommerburg, Olaf and Hoffmann, Georg F.},
  title={Neugeborenenscreening 2020},
  subtitle={Perspektiven der Krankheitsfr{\"u}herkennung},
  year={2017},
  pages={216-225},
  language={eng},
  issn={1433-0474},
  volume={165},
  number={3},
  note={Gesehen am 26.04.2018},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-016-0233-5},
}
@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 B<Subscript>12</Subscript> 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-68247456,
  author={Gramer, Gwendolyn and Gramer, Eugen and Weisschuh, Nicole},
  title={Optic disc drusen and family history of Glaucoma},
  subtitle={results of a patient-directed survey},
  year={2017},
  pages={940-946},
  language={eng},
  issn={1536-481X},
  volume={26},
  number={10},
  note={Gesehen am 27.04.2018},
  journal={Journal of glaucoma},
  doi={10.1097/IJG.0000000000000750},
}
@article{UBHD-67686331,
  author={Gramer, Gwendolyn and Weber, Bernhard H. F. and Gramer, Eugen},
  title={Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients},
  year={2014},
  pages={259-264},
  language={eng},
  issn={1552-5783},
  volume={55},
  number={1},
  note={Gesehen am13.10.2014},
  journal={Investigative ophthalmology & visual science},
  doi={10.1167/iovs.13-13020},
}
@article{UBHD-68940739,
  author={Gramer, Gwendolyn and Hoffmann, Georg F.},
  title={Second-tier strategies in newborn screening},
  subtitle={potential and limitations},
  year={2022},
  pages={21-28},
  language={eng},
  issn={1863-5490},
  volume={34},
  number={1},
  note={Gesehen am 12.07.2022},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2022-2117},
}
@article{UBHD-68247454,
  author={Gramer, Gwendolyn and Gramer, Eugen},
  title={Stage of visual field loss and age at diagnosis in 1988 patients with different glaucomas},
  subtitle={implications for glaucoma screening and driving ability},
  year={2018},
  pages={429-441},
  language={eng},
  issn={1573-2630},
  volume={38},
  number={2},
  note={First online: 27 February 2017 ; Gesehen am 04.06.2018},
  journal={International ophthalmology},
  doi={10.1007/s10792-017-0477-7},
}
@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-68804938,
  author={Gramer, Gwendolyn and Hoffmann, Georg F.},
  title={Vitamin-B12-Mangel im Neugeborenen- und S{\"a}uglingsalter},
  subtitle={Ursachen, Fr{\"u}herkennung, Diagnostik und Vorstellung eines prim{\"a}r oralen Behandlungsschemas},
  year={2020},
  pages={1-7},
  language={ger},
  issn={1433-0474},
  volume={?},
  note={Gesehen am 24.11.2021},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-020-01008-5},
  url={https://doi.org/10.1007/s00112-020-01008-5},
  library={UB},
}
@article{UBHD-68662711,
  author={Gramer, Gwendolyn and Hoffmann, Georg F.},
  title={Vitamin B12 deficiency in newborns and their mothers},
  subtitle={novel approaches to early detection, treatment and prevention of a global health issue},
  year={2020},
  pages={801-809},
  language={eng},
  issn={2523-899X},
  volume={40},
  number={5},
  note={Im Text ist die "12" tiefgestellt ; Gesehen am 19.11.2020},
  journal={Current medical science},
  doi={10.1007/s11596-020-2260-7},
}
@article{UBHD-68747056,
  author={Gr{\"u}nert, Sarah and Schumann, A. and Freisinger, P. and Rosenbaum-Fabian, S. and Schmidts, M. and M{\"u}ller, Amelie Johanna and Beck-W{\"o}dl, S. and Haack, T. B. and Schneider, H. and Fuchs, H. and Teufel, U. and Gramer, Gwendolyn and Hannibal, L. and Spiekerk{\"o}tter, Ute},
  title={Citrin deficiency mimicking mitochondrial depletion syndrome},
  year={2020},
  pages={1-7},
  language={eng},
  issn={1471-2431},
  volume={20},
  number={Artikel-ID 518},
  note={Gesehen am 10.06.2021},
  journal={BMC pediatrics},
  doi={10.1186/s12887-020-02409-x},
}
@article{UBHD-68575839,
  author={Gr{\"u}nert, Sarah and Tucci, Sara and Schumann, Anke and Schwendt, Meike and Gramer, Gwendolyn and Hoffmann, Georg F. and Erbel, Michelle and Stiller, Brigitte and Spiekerk{\"o}tter, Ute},
  title={Primary carnitine deficiency},
  subtitle={diagnosis after heart transplantation : better late than never!},
  year={2020},
  pages={1-6},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 87},
  note={Gesehen am 12.05.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01371-2},
}
@article{UBHD-68447592,
  author={Keller, Rebecca and K{\"o}lker, Stefan and Gramer, Gwendolyn and Okun, J{\"u}rgen G. and Gleich, Florian},
  title={Newborn screening for homocystinurias},
  subtitle={recent recommendations versus current practice},
  year={2019},
  pages={128-139},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={1},
  note={Gesehen am 29.10.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12034},
}
@article{UBHD-68583371,
  author={Kunz, Joachim and Awad, Saida Beatrix and Happich, Margit and Muckenthaler, Lena and Lindner, Martin and Gramer, Gwendolyn and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Bruckner, Thomas and Muckenthaler, Martina and Kulozik, Andreas},
  title={Significant prevalence of sickle cell disease in Southwest Germany},
  subtitle={results from a birth cohort study indicate the necessity for newborn screening},
  year={2016},
  pages={397-402},
  language={eng},
  issn={1432-0584},
  volume={95},
  number={3},
  note={Published online: 12 December 2015 ; Gesehen am 03.06.2020},
  journal={Annals of hematology},
  doi={10.1007/s00277-015-2573-y},
}
@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-69052451,
  author={Monostori, Péter and Godejohann, Markus and Janda, Joachim and Galla, Zsolt and Rácz, Gábor and Klinke, Glynis and Szatmári, Ildikó and Zsidegh, Petra and Kohlm{\"u}ller, Dirk and K{\"o}lker, Stefan and Hoffmann, Georg F. and Gramer, Gwendolyn and Okun, J{\"u}rgen G.},
  title={Identification of potential interferents of methylmalonic acid},
  subtitle={a previously unrecognized pitfall in clinical diagnostics and newborn screening},
  year={2023},
  pages={72-80},
  language={eng},
  issn={1873-2933},
  volume={111(2023) vom: Jan.},
  note={Online ver{\"o}ffentlicht am 3. Oktober 2022 ; Gesehen am 16.11.2023},
  journal={Clinical biochemistry},
  doi={10.1016/j.clinbiochem.2022.09.010},
}
@article{UBHD-68247082,
  author={Monostori, Péter and Klinke, Glynis and Richter, Sylvia and K{\"o}lker, Stefan and Hoffmann, Georg F. and Gramer, Gwendolyn and Okun, J{\"u}rgen G.},
  title={Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots},
  subtitle={Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders},
  year={2017},
  pages={16 S.},
  language={eng},
  issn={1932-6203},
  volume={12(2017},
  note={Gesehen am 26.04.2018},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0184897},
  url={http://dx.doi.org/10.1371/journal.pone.0184897},
  library={UB},
}
@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-68299592,
  author={Muntau, Ania and Gramer, Gwendolyn},
  title={Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years},
  subtitle={results from the SPARK open-label, multicentre, randomized phase IIIb trial},
  year={2017},
  pages={1-11},
  language={eng},
  issn={1750-1172},
  volume={12},
  number={Artikel-ID 47},
  note={Gesehen am 28.08.2018},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-017-0600-x},
}
@article{UBHD-68793086,
  author={Muntau, Ania and Burlina, Alberto and Eyskens, François and Freisinger, Peter and Leuzzi, Vincenzo and Sivri, Hatice Serap and Gramer, Gwendolyn and Pazdírková, Renata and Cleary, Maureen and Lotz-Havla, Amelia S. and Lane, Paul and Alvarez, Ignacio and Rutsch, Frank},
  title={Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria},
  subtitle={results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial},
  year={2021},
  pages={1-11},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 341},
  note={Gesehen am 25.10.2021},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-01968-1},
}
@article{UBHD-68426708,
  author={Pilotto, Andrea and Blau, Nenad and Leks, Edytha and Schulte, Claudia and Deuschl, Christian and Zipser, Carl and Piel, David and Freisinger, Peter and Gramer, Gwendolyn and K{\"o}lker, Stefan and Haas, Dorothea and Burgard, Peter and Nawroth, Peter and Hoffmann, Georg F. and Scheffler, Klaus and Berg, Daniela and Trefz, Friedrich K.},
  title={Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria},
  year={2019},
  pages={398-406},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={3},
  note={Gesehen am 04.09.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12049},
}
@article{UBHD-68772040,
  author={Pilotto, Andrea and Zipser, Carl M. and Leks, Edytha and Haas, Dorothea and Gramer, Gwendolyn and Freisinger, Peter and Schaeffer, Eva and Liepelt-Scarfone, Inga and Brockmann, Kathrin and Maetzler, Walter and Schulte, Claudia and Deuschle, Christian and Hauser, Ann Kathrin and Hoffmann, Georg F. and Scheffler, Klaus and Spronsen, Francjan J. van and Padovani, Alessandro and Trefz, Friedrich K. and Berg, Daniela},
  title={Phenylalanine effects on brain function in adult Phenylketonuria},
  year={2021},
  pages={e399-e411},
  language={eng},
  issn={1526-632X},
  volume={96},
  number={3},
  note={Gesehen am 19.08.2021 ; First published: October 22, 2020},
  journal={Neurology},
  doi={10.1212/WNL.0000000000011088},
}
@article{UBHD-68905546,
  author={Radelfahr, Florentine and Riedhammer, Korbinian M. and Keidel, Leonie F. and Gramer, Gwendolyn and Meitinger, Thomas and Klopstock, Thomas and Wagner, Matias},
  title={Biotinidase deficiency},
  subtitle={a treatable cause of hereditary spastic paraparesis},
  year={2020},
  pages={1-4},
  language={eng},
  issn={2376-7839},
  volume={6},
  number={6},
  note={Gesehen am 10.04.2022},
  journal={Neurology},
  doi={10.1212/NXG.0000000000000525},
}
@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-69227553,
  author={Reischl-Hajiabadi, Anna Theresa and Schnabel-Besson, Elena and Gleich, Florian and Mengler, Katharina and Lindner, Martin and Burgard, Peter and Posset, Roland and Lommer-Steinhoff, Svenja and Gr{\"u}nert, Sarah and Thimm, Eva and Freisinger, Peter and Hennermann, Julia B. and Kr{\"a}mer, Johannes and Gramer, Gwendolyn and Lenz, Dominic and Christ, Stine and H{\"o}rster, Friederike and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan and M{\"u}tze, Ulrike},
  title={Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias},
  year={2024},
  pages={674-689},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={4 vom: Juli},
  note={Erstmals ver{\"o}ffentlicht: 02 April 2024 ; Gesehen am 01.07.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12731},
}
@article{UBHD-68252214,
  author={Reiter, Constantin Wei-te Caspar and Gramer, Eugen and Gramer, Gwendolyn},
  title={Pseudoexfoliationssyndrom},
  subtitle={Fehlen der zentralen Zone des Pseudoexfoliations-Materials bei Patienten mit Pseudophakie : eine klinische Studie},
  year={2012},
  pages={241-245},
  language={ger and eng},
  issn={1439-3999},
  volume={229},
  number={03},
  note={Publikationsdatum: 21.November 2011 (eFirst) ; Gesehen am 15.05.2018},
  journal={Klinische Monatsbl{\"a}tter f{\"u}r Augenheilkunde},
  doi={10.1055/s-0031-1281817},
}
@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-68973013,
  author={Schneider, Evelin and Gramer, Gwendolyn and Schargus, Marc and Gramer, Eugen},
  title={Visual fields, visual acuity, and driving performance in patients with pituitary adenoma before and after surgery},
  year={2011},
  pages={259-263},
  language={eng},
  issn={1744-506X},
  volume={35},
  number={5-6 vom: Dez.},
  note={Gesehen am 12.10.2022},
  journal={Neuro-ophthalmology},
  doi={10.3109/01658107.2011.623812},
}
@article{UBHD-68956963,
  author={Sommerburg, Olaf and Stahl, Mirjam and H{\"a}mmerling, Susanne Hedwig and Gramer, Gwendolyn and Muckenthaler, Martina and Okun, J{\"u}rgen G. and Kohlm{\"u}ller, Dirk and Happich, Margit and Kulozik, Andreas and Mall, Marcus A. and Hoffmann, Georg F.},
  title={Final results of the southwest German pilot study on cystic fibrosis newborn screening},
  subtitle={evaluation of an IRT/PAP protocol with IRT-dependent safety net},
  year={2022},
  pages={422-433},
  language={eng},
  issn={1873-5010},
  volume={21},
  number={3 vom: Mai},
  note={Available online 9 November 2021 ; Gesehen am 24.08.2022},
  journal={Journal of cystic fibrosis},
  doi={10.1016/j.jcf.2021.10.007},
}
@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-68589678,
  author={Stendel, Claudia and Gallenm{\"u}ller, Constanze and Peters, Katrin and B{\"u}rger, Friederike and Gramer, Gwendolyn and Biskup, Saskia and Klopstock, Thomas},
  title={Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene},
  year={2015},
  pages={1072-1073},
  language={eng},
  issn={1432-1459},
  volume={262},
  number={4},
  note={Gesehen am 22.06.2020},
  journal={Journal of neurology},
  doi={10.1007/s00415-015-7729-0},
}
@book{UBHD-68331117,
  author={Vliet, Danique van and Blau, Nenad and Gramer, Gwendolyn and Trefz, Friedrich K.},
  title={Can untreated PKU patients escape from intellectual disability?},
  subtitle={a systematic review},
  publisher={BioMed Central},
  address={London},
  year={2018},
  pages={1 Online-Ressource (6 Seiten)},
  language={eng},
  note={Aus: Orphanet Journal of Rare Diseases, 13 (2018), Nr. 149. pp. 1-6. ISSN 1750-1172},
  doi={10.1186/s13023-018-0890-7},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-254560},
  library={UB},
}
@article{UBHD-68882389,
  author={Wegberg, Annemiek M. J. van and Trefz, Friedrich K. and Gizewska, Maria and Ahmed, Sibtain and Chabraoui, Layachi and Zaki, Maha S. and Maillot, François and van Spronsen,  Francjan J. and Haas, Dorothea and Gramer, Gwendolyn},
  title={Undiagnosed phenylketonuria can exist everywhere},
  subtitle={results from an international survey},
  year={2021},
  pages={6 S.},
  language={eng},
  issn={1097-6833},
  volume={239(2021) Seite 231-234},
  note={Additional members of the Study Group on Missed PKU and Missed to Follow-Up: D. Haas, G. Gramer [und andere] ; Gesehen am 09.03.2022},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2021.08.070},
}
@article{UBHD-69194209,
  author={Wolf, Christiane and Gramer, Eugen and M{\"u}ller-Myhsok, Bertram and Pasutto, Francesca and Gramer, Gwendolyn and Wissinger, Bernd and Weisschuh, Nicole},
  title={Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma},
  year={2010},
  pages={136-141},
  language={eng},
  issn={1536-481X},
  volume={19},
  number={2 vom: Feb.},
  note={Gesehen am 21.03.2024},
  journal={Journal of glaucoma},
  doi={10.1097/IJG.0b013e31819f9330},
}