@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-68737198,
  author={Evers, Roeland A. F. and van Wegberg, A. M. J. and Ahring, K. and Beblo, S. and Bélanger-Quintana, A. and Bosch, A. M. and Burlina, A. and Campistol, J. and Coskun, T. and Feillet, F. and Giżewska, M. and Huijbregts, S. C. J. and Kearney, S. and Langeveld, M. and Leuzzi, V. and Maillot, F. and Muntau, A. C. and Rocha, J. C. and Romani, C. and Trefz, Friedrich K. and MacDonald, A. and van Spronsen, F. J.},
  title={Defining tetrahydrobiopterin responsiveness in phenylketonuria},
  subtitle={survey results from 38 countries},
  year={2021},
  pages={215-219},
  language={eng},
  issn={1096-7206},
  volume={132},
  number={4},
  note={Gesehen am 12.05.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2021.01.013},
}
@article{UBHD-69245517,
  author={Feillet, François and Ficicioglu, Can and Lagler, Florian B. and Longo, Nicola and Muntau, Ania C. and Burlina, Alberto and Trefz, Friedrich K. and van Spronsen, Francjan J. and Arnoux, Jean-Baptiste and Lindstrom, Kristin and Lilienstein, Joshua and Clague, Gillian E. and Rowell, Richard and Burton, Barbara K.},
  title={Efficacy and safety of sapropterin before and during pregnancy},
  subtitle={final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries},
  year={2024},
  pages={636-650},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={4 vom: Juli},
  note={Erstver{\"o}ffentlichung: 03 March 2024 ; Gesehen am 20.08.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12724},
}
@article{UBHD-68405382,
  author={Garbade, Sven and Himmelreich, Nastassja and Haas, Dorothea and Trefz, Friedrich K. and Hoffmann, Georg F. and Burgard, Peter and Blau, Nenad},
  title={Allelic phenotype values},
  subtitle={a model for genotype-based phenotype prediction in phenylketonuria},
  year={2019},
  pages={580-590},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={3},
  note={Published: 12 July 2018 ; Gesehen am 05.07.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-018-0081-x},
}
@article{UBHD-68934384,
  author={Giżewska, Maria and van Wegberg, Annemiek M J and Maillot, François and Trefz, Friedrich K. and van Spronsen, Francjan J},
  title={Caring for Ukrainian refugee children with acute and chronic diseases},
  year={2022},
  pages={1689},
  language={eng},
  issn={1474-547X},
  volume={399},
  number={10336},
  note={Gesehen am 24.06.2022},
  journal={The lancet},
  doi={10.1016/S0140-6736(22)00578-5},
}
@article{UBHD-68807089,
  author={Haas, Dorothea and Hauke, Jana and Schwarz, Kathrin V. and Consalvi, Lucia and Trefz, Friedrich K. and Blau, Nenad and Hoffmann, Georg F. and Burgard, Peter and Garbade, Sven and Okun, J{\"u}rgen G.},
  title={Differences of phenylalanine concentrations in dried blood spots and in plasma},
  subtitle={erythrocytes as a neglected component for this observation},
  year={2021},
  pages={1-10},
  language={eng},
  issn={2218-1989},
  volume={11},
  note={Gesehen am 01.12.2021},
  journal={Metabolites},
  doi={10.3390/metabo11100680},
}
@article{UBHD-68650716,
  author={Hillert, Alicia and Th{\"o}ny, Beat and Trefz, Friedrich K. and Hoffmann, Georg F. and Garbade, Sven and Blau, Nenad},
  title={The genetic landscape and epidemiology of phenylketonuria},
  year={2020},
  pages={234-250},
  language={eng},
  issn={1537-6605},
  volume={107},
  number={2},
  note={Gesehen am 20.10.2020 ; PDF ist kostenpflichtig},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2020.06.006},
}
@article{UBHD-69223757,
  author={Hoffmann, Georg F. and Gibson, K. M. and Trefz, Friedrich K. and Nyhan, W. L. and Bremer, Hans J. and Rating, Dietz},
  title={Neurological manifestations of organic acid disorders},
  year={1994},
  pages={S94-S100},
  language={eng},
  issn={1432-1076},
  volume={153},
  number={suppl. 1},
  note={Gesehen am 17.06.2024},
  journal={European journal of pediatrics},
  doi={10.1007/BF02138786},
}
@article{UBHD-68582920,
  author={Huemer, Martina and Trefz, Friedrich K.},
  title={Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency},
  year={2016},
  pages={115-124},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={1},
  note={Published online: 30 May 2015 ; Gesehen am 02.06.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9860-6},
}
@article{UBHD-68007576,
  author={MacDonald, Anita and Blau, Nenad and Trefz, Friedrich K.},
  title={The challenges of managing coexistent disorders with phenylketonuria},
  subtitle={30 cases},
  year={2015},
  pages={242-251},
  language={eng},
  issn={1096-7206},
  volume={116},
  number={4},
  note={Gesehen am 14.07.2016},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2015.10.001},
}
@article{UBHD-68706047,
  author={MacDonald, Anita and Wegberg, Anna van and Ahring, K. and Beblo, S. and Belanger-Quintana, A. and Burlina, Angelo and Campistol, Josep M. and Mehdorn, T{\"u}rkan and Feillet, F. and Giżewska, Maria and Huijbregts, S. C. and Leuzzi, Vincenzo and Maillot, F. and Muntau, Ania and Rocha, J. C. and Romani, C. and Trefz, Friedrich K. and Spronsen, F. J. van},
  title={Correction to: PKU dietary handbook to accompany PKU guidelines},
  year={2020},
  pages={1},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 230},
  note={Gesehen am 02.03.2021},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01486-6},
}
@article{UBHD-68647369,
  author={MacDonald, Anita and Wegberg, Anna van and Ahring, K. and Beblo, S. and Belanger-Quintana, A. and Burlina, Angelo and Campistol, Josep M. and Mehdorn, T{\"u}rkan and Feillet, F. and Giżewska, Maria and Huijbregts, S. C. and Leuzzi, Vincenzo and Maillot, F. and Muntau, Ania and Rocha, J. C. and Romani, C. and Trefz, Friedrich K. and Spronsen, F. J. van},
  title={PKU dietary handbook to accompany PKU guidelines},
  year={2020},
  pages={1-22},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 171},
  note={Gesehen am 12.10.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01391-y},
}
@article{UBHD-69218076,
  author={Mayatepek, Ertan and Hoffmann, Georg F. and Baumgartner, R. and Schulze, Andreas and Jakobs, C. and Trefz, Friedrich K. and Bremer, Hans J.},
  title={Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy},
  subtitle={a new genetic disease?},
  year={1996},
  pages={398-403},
  language={eng},
  issn={1432-1076},
  volume={155},
  number={5},
  note={Im Titel ist 12 tiefgestellt ; Gesehen am 28.05.2024},
  journal={European journal of pediatrics},
  doi={10.1007/BF01955272},
}
@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-68866808,
  author={Saffari, Afshin and Cannet, Claire and Blaschek, Astrid and Hahn, Andreas and Hoffmann, Georg F. and Johannsen, Jessika and Kirsten, Romy and Kockaya, Musa and K{\"o}lker, Stefan and M{\"u}ller-Felber, Wolfgang and Roos, Andreas and Sch{\"a}fer, Hartmut and Schara, Ulrike and Spraul, Manfred and Trefz, Friedrich K. and Vill, Katharina and Wick, Wolfgang and Weiler, Markus and Okun, J{\"u}rgen G. and Ziegler, Andreas},
  title={1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy},
  year={2021},
  pages={1-16},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 441},
  note={Im Text ist "1" hochgestellt ; Gesehen am 15.01.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-02075-x},
  url={https://doi.org/10.1186/s13023-021-02075-x},
  library={UB},
}
@article{UBHD-69346284,
  author={Saffari, Afshin and Niesert, Moritz and Cannet, Claire and Blaschek, Astrid and Hahn, Andreas and Johannsen, Jessika and Kockaya, Musa and K{\"o}lbel, Heike and Hoffmann, Georg F. and Claus, Peter and K{\"o}lker, Stefan and M{\"u}ller-Felber, Wolfgang and Roos, Andreas and Schara-Schmidt, Ulrike and Trefz, Friedrich K. and Vill, Katharina and Wick, Wolfgang and Weiler, Markus and Okun, J{\"u}rgen G. and Ziegler, Andreas},
  title={Identification of biochemical determinants for diagnosis and prediction of severity in 5q spinal muscular atrophy using 1H-nuclear magnetic resonance metabolic profiling in patient-derived biofluids},
  year={2024},
  pages={1-19},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={25},
  note={Die Ziffer 1 ist im Titel hochgestellt ; Gesehen am 20.05.2025},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms252212123},
}
@article{UBHD-68309704,
  author={Spronsen, F. J. van and Blau, Nenad and Trefz, Friedrich K.},
  title={Issues with European guidelines for phenylketonuria - authors' reply},
  year={2017},
  pages={683-684},
  language={eng},
  issn={2213-8595},
  volume={5},
  number={9},
  note={Available online 25 August 2017 ; Gesehen am 27.09.2018},
  journal={The lancet},
  doi={10.1016/S2213-8587(17)30202-4},
}
@article{UBHD-68309700,
  author={Spronsen, F. J. van and Blau, Nenad and Trefz, Friedrich K.},
  title={Key European guidelines for the diagnosis and management of patients with phenylketonuria},
  year={2017},
  pages={743-756},
  language={eng},
  issn={2213-8595},
  volume={5},
  number={9},
  note={Available online 10 January 2017 ; Gesehen am 27.09.2018},
  journal={The lancet},
  doi={10.1016/S2213-8587(16)30320-5},
}
@article{UBHD-68469392,
  author={Trefz, Friedrich K. and Muntau, A. C. and Kohlscheen, K. M. and Altevers, J. and Jacob, C. and Braun, S. and Greiner, W. and Jha, A. and Jain, M. and Alvarez, I. and Lane, P. and Schr{\"o}der, C. and Rutsch, F.},
  title={Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data},
  year={2019},
  pages={1-16},
  language={eng},
  issn={1750-1172},
  volume={14},
  number={Artikel-ID 181},
  note={Gesehen am 18.12.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1153-y},
}
@article{UBHD-69322496,
  author={Trefz, Friedrich K. and Frauendienst-Egger, Georg and Dienel, Gerald and Cannet, Claire and Schmidt-Mader, Brigitte and Haas, Dorothea and Blau, Nenad and Himmelreich, Nastassja and Spraul, Manfred and Freisinger, Peter and Dobrowolski, Steven and Berg, Daniela and Pilotto, Andrea},
  title={Does hyperphenylalaninemia induce brain glucose hypometabolism?},
  subtitle={ Cerebral spinal fluid findings in treated adult phenylketonuric patients},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1096-7206},
  volume={142},
  note={Gesehen am 26.03.2025},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2024.108464},
}
@book{UBHD-66893703,
  author={Trefz, Friedrich K.},
  title={Entwicklung und Bau einer automatisierten S{\"a}ulenchromatographie-Anlage und ihre Anwendung bei der Untersuchung von Stoffwechselerkrankungen},
  year={1976},
  pages={61 gez. Bl.},
  language={ger},
  school={Heidelberg, Univ., Diss., 1976},
  library={UB [Signatur: 76 Q 254]},
}
@book{UBHD-2534030,
  author={Trefz, Friedrich K.},
  title={In-vivo-Bestimmung der Aktivit{\"a}t des Phenylalanin-hydroxylierenden Systems},
  subtitle={Bedeutung der Methode bei der Differentialdiagnose der Phenylketonurie und ihrer Varianten},
  year={1983},
  pages={143 Bl.},
  language={ger},
  school={Heidelberg, Univ., Habil.-Schr., 1983},
  library={UB [Signatur: 86 U 642]},
}
@article{UBHD-68613745,
  author={Trefz, Friedrich K. and Muntau, Ania and Lagler, Florian Bartholom{\"a}us and Moreau, Flavie and Alm, Jan and Burlina, Alberto and Rutsch, Frank and Bélanger-Quintana, Amaya and Feillet, François},
  title={The Kuvan® adult maternal paediatric European registry (KAMPER) multinational observational study},
  subtitle={baseline and 1-Year data in phenylketonuria patients responsive to sapropterin},
  year={2015},
  pages={35-43},
  language={eng},
  issn={2192-8312},
  volume={23},
  note={Gesehen am 06.07.2020},
  journal={JIMD reports},
  doi={10.1007/8904_2015_425},
}
@book{UBHD-68028105,
  author={Trefz, Friedrich K. and Funk-Wentzel, Petra and Heimann, Johannes},
  title={Maternale PKU},
  subtitle={Erfahrungen und Behandlungsstrategien; ein praxisorientiertes Handbuch f{\"u}r Stoffwechsel{\"a}rzte, Ern{\"a}hrungsfachkr{\"a}fte, Gyn{\"a}kologen und Betroffene},
  publisher={SPS},
  address={Heilbronn},
  year={2005},
  pages={125 S.},
  language={ger},
  isbn={3-936145-20-2 and 978-3-936145-20-5},
  keywords={Schwangerschaft / Phenylketonurie},
}
@article{UBHD-68141567,
  author={Trefz, Friedrich K. and Blau, Nenad},
  title={Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia},
  subtitle={a semi-mechanistically-based, nonlinear mixed-effect modeling},
  year={2015},
  pages={564-569},
  language={eng},
  issn={1096-7206},
  volume={114},
  number={4},
  note={Gesehen am 24.07.2017 ; Im Titel ist "4" in (BH4) tiefgestellt},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2015.01.013},
}
@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-68497950,
  author={Vliet, Danique van and van Wegberg, Annemiek M.J. and Ahring, Kirsten and Bik-Multanowski, Miroslaw and Casas, Kari and Didycz, Bozena and Djordjevic, Maja and Hertecant, Jozef L. and Leuzzi, Vincenzo and Mathisen, Per and Nardecchia, Francesca and Powell, Kimberly K. and Rutsch, Frank and Stojiljkovic, Maja and Trefz, Friedrich K. and Usurelu, Natalia and Wilson, Callum and van Karnebeek, Clara D. and Hanley, William B. and van Spronsen, Francjan J.},
  title={Untreated PKU patients without intellectual disability},
  subtitle={what do they teach us?},
  year={2019},
  pages={10 S.},
  language={eng},
  issn={2072-6643},
  volume={11(2019},
  note={Gesehen am 05.03.2020},
  journal={Nutrients},
  doi={10.3390/nu11112572},
}
@book{UBHD-68192804,
  author={Wegberg, Anna van and Blau, Nenad and Trefz, Friedrich K.},
  title={The complete European guidelines on phenylketonuria},
  subtitle={diagnosis and treatment},
  publisher={BioMed Central},
  address={London},
  year={2017},
  pages={1 Online-Ressource},
  language={eng},
  note={Aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 162. pp. 1-56. ISSN 1750-1172},
  doi={10.1186/s13023-017-0685-2},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-235927},
  library={UB},
}
@article{UBHD-68706149,
  author={Wegberg, Anna van and MacDonald, A. and Abeln, D. and Hagedorn, T. S. and Lange, E. and Trefz, Friedrich K. and van Vliet, D. and van Spronsen, F. J.},
  title={Patient’s thoughts and expectations about centres of expertise for PKU},
  year={2021},
  language={eng},
  issn={1750-1172},
  volume={16(2021) Artikel-Nummer 2},
  number={8 Seite},
  note={Gesehen am 02.03.2021},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01647-7},
}
@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},
}