@article{UBHD-68414899,
  author={Almannai, Mohammed and Blau, Nenad},
  title={6-Pyruvoyltetrahydropterin synthase deficiency},
  subtitle={review and report of 28 Arab subjects},
  year={2019},
  pages={40-47},
  language={eng},
  issn={1873-5150},
  volume={96},
  note={Gesehen am 01.08.2019},
  journal={Pediatric neurology},
  doi={10.1016/j.pediatrneurol.2019.02.008},
}
@article{UBHD-68665581,
  author={Anjema, Karen and van Rijn, Margreet and Hofstede, Floris C. and Bosch, Annet M. and Hollak, Carla EM and Rubio-Gozalbo, Estela and de Vries, Maaike C. and Janssen, Mirian CH and Boelen, Carolien CA and Burgerhof, Johannes GM and Blau, Nenad and Heiner-Fokkema, M. Rebecca and van Spronsen, Francjan J.},
  title={Tetrahydrobiopterin responsiveness in phenylketonuria},
  subtitle={prediction with the 48-hour loading test and genotype},
  year={2013},
  pages={9 S.},
  language={eng},
  issn={1750-1172},
  volume={8},
  note={Gesehen am 25.11.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/1750-1172-8-103},
}
@article{UBHD-68312869,
  author={Blau, Nenad and Fowler, Brian},
  title={SSIEM 2011},
  year={2012},
  pages={569},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={4},
  note={Gesehen am 08.10.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9501-2},
}
@article{UBHD-68427625,
  author={Blau, Nenad},
  title={Genetics of phenylketonuria},
  subtitle={then and now},
  year={2016},
  pages={508-515},
  language={eng},
  issn={1098-1004},
  volume={37},
  number={6},
  note={Gesehen am 06.09.2019},
  journal={Human mutation},
  doi={10.1002/humu.22980},
}
@article{UBHD-68438267,
  author={Blau, Nenad and Hoffmann, Georg F.},
  title={DNAJC12 deficiency},
  subtitle={A new strategy in the diagnosis of hyperphenylalaninemias},
  year={2018},
  pages={1-5},
  language={eng},
  issn={1096-7206},
  volume={123},
  number={1},
  note={Gesehen am 10.10.2019 ; Available online 20 November 2017 ; DOI funktioniert nicht},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2017.11.005},
}
@article{UBHD-68149756,
  author={Blau, Nenad and Longo, Nicola},
  title={Alternative therapies to address the unmet medical needs of patients with phenylketonuria},
  year={2015},
  pages={791-800},
  language={eng},
  issn={1744-7666},
  volume={16},
  number={6},
  note={Gesehen am 14.08.2017},
  journal={Expert opinion on pharmacotherapy},
  doi={10.1517/14656566.2015.1013030},
}
@article{UBHD-68666357,
  author={Blau, Nenad},
  title={Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias},
  year={2013},
  pages={1207-1218},
  language={eng},
  issn={1744-7607},
  volume={9},
  number={9},
  note={Gesehen am 27.11.2020},
  journal={Expert opinion on drug metabolism & toxicology},
  doi={10.1517/17425255.2013.804064},
}
@article{UBHD-67995550,
  author={Blau, Nenad and Shen, Nan},
  title={Molecular genetics and diagnosis of phenylketonuria},
  subtitle={state of the art},
  year={2014},
  pages={655-671},
  language={eng},
  issn={1744-8352},
  volume={14},
  number={6},
  note={Gesehen am 15.04.2016},
  journal={Expert review of molecular diagnostics},
  doi={10.1586/14737159.2014.923760},
}
@article{UBHD-68762577,
  author={Burlina, Alberto and Giuliani, Antonella and Polo, Giulia and Gueraldi, Daniela and Gragnaniello, Vincenza and Cazzorla, Chiara and Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad and Burlina, Alessandro P.},
  title={Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency},
  subtitle={the northeastern Italian experience},
  year={2021},
  pages={56-62},
  language={eng},
  issn={1096-7206},
  volume={133},
  number={1},
  note={Gesehen am 22.07.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2021.03.009},
}
@article{UBHD-67891246,
  author={Camp, Kathryn M. and Blau, Nenad},
  title={Phenylketonuria Scientific Review Conference - state of the science and future research needs},
  year={2014},
  pages={87-122},
  language={eng},
  issn={1096-7206},
  volume={112},
  number={2},
  note={Gesehen am 23.10.2015},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2014.02.013},
}
@article{UBHD-68729743,
  author={Cleary, Maureen and Trefz, Friedrich and Muntau, Ania C. and Feillet, François and van Spronsen, Francjan J. and Burlina, Alberto and Bélanger-Quintana, Amaya and Giżewska, Maria and Gasteyger, Christoph and Bettiol, Esther and Blau, Nenad and MacDonald, Anita},
  title={Fluctuations in phenylalanine concentrations in phenylketonuria},
  subtitle={a review of possible relationships with outcomes},
  year={2013},
  pages={418-423},
  language={eng},
  issn={1096-7206},
  volume={110},
  number={4},
  note={Gesehen am 28.04.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2013.09.001},
}
@article{UBHD-68220058,
  author={Delmelle, Françoise and Blau, Nenad},
  title={Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation},
  year={2016},
  pages={709-713},
  language={eng},
  issn={1532-2130},
  volume={20},
  number={5},
  note={Gesehen am 14.02.2018},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2016.05.021},
}
@article{UBHD-68576280,
  author={Fernández-Lainez, Cynthia and Ibarra-González, Isabel and Alcántara-Ortigoza, Miguel Ángel and Fernández-Hernández, Liliana and Enríquez-Flores, Sergio and González-del Ángel, Ariadna and Blau, Nenad and Th{\"o}ny, Beat and Guillén-López, Sara and Belmont-Martínez, Leticia and Ruiz-García, Matilde and Vela-Amieva, Marcela},
  title={Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico},
  year={2018},
  pages={530-536},
  language={eng},
  issn={1872-7131},
  volume={40},
  number={7},
  note={Gesehen am 13.05.2020},
  journal={Brain & development},
  doi={10.1016/j.braindev.2018.03.014},
}
@article{UBHD-68455900,
  author={Ferreira Lopez, Carlos R and Cassiman, David and Blau, Nenad},
  title={Clinical and biochemical footprints of inherited metabolic diseases},
  subtitle={II. Metabolic liver diseases},
  year={2019},
  pages={117-121},
  language={eng},
  issn={1096-7206},
  volume={127},
  number={2},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.04.002},
}
@article{UBHD-68495671,
  author={Ferreira Lopez, Carlos R and Hoffmann, Georg F. and Blau, Nenad},
  title={Clinical and biochemical footprints of inherited metabolic diseases},
  subtitle={I. Movement disorders},
  year={2019},
  pages={28-30},
  language={eng},
  issn={1096-7206},
  volume={127},
  number={1},
  note={Gesehen am 03.03.2020 ; Available online 26 March 2019},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.03.007},
}
@article{UBHD-68412715,
  author={Ferreira Lopez, Carlos R and Blau, Nenad},
  title={A proposed nosology of inborn errors of metabolism},
  year={2019},
  pages={102-106},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={1},
  note={Published: 08 June 2018 ; Gesehen am 26.07.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-018-0022-8},
}
@article{UBHD-68250385,
  author={Friedman, Jennifer R. and Hoffmann, Georg F. and Lutz, Thomas and Blau, Nenad},
  title={Sepiapterin reductase deficiency},
  subtitle={a treatable mimic of cerebral palsy},
  year={2012},
  pages={520-530},
  language={eng},
  issn={1531-8249},
  volume={71},
  number={4},
  note={Gesehen am 08.05.2018},
  journal={Annals of neurology},
  doi={10.1002/ana.22685},
}
@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-68587343,
  author={Giżewska, Maria and MacDonald, Anita and Bélanger-Quintana, Amaya and Burlina, Alberto and Cleary, Maureen and Coşkun, Turgay and Feillet, François and Muntau, Ania C. and Trefz, Friedrich K. and van Spronsen, Francjan J. and Blau, Nenad},
  title={Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region},
  subtitle={survey results},
  year={2016},
  pages={261-272},
  language={eng},
  issn={1432-1076},
  volume={175},
  note={Published online: 8 September 2015 ; Gesehen am 16.06.2020},
  journal={European journal of pediatrics},
  doi={10.1007/s00431-015-2622-5},
}
@article{UBHD-68640788,
  author={Graziano, Claudio and Wischmeijer, Anita and Pippucci, Tommaso and Fusco, Carlo and Diquigiovanni, Chiara and Nõukas, Margit and Sauk, Martin and Kurg, Ants and Rivieri, Francesca and Blau, Nenad and Hoffmann, Georg F. and Chaubey, Alka and Schwartz, Charles E. and Romeo, Giovanni and Bonora, Elena and Garavelli, Livia and Seri, Marco},
  title={Syndromic intellectual disability},
  subtitle={a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant},
  year={2015},
  pages={144-148},
  language={eng},
  issn={1879-0038},
  volume={559},
  number={2},
  note={Gesehen am 28.09.2020},
  journal={Gene},
  doi={10.1016/j.gene.2015.01.026},
}
@article{UBHD-68245121,
  author={Heintz, Caroline and Blau, Nenad},
  title={Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry},
  year={2012},
  pages={559-565},
  language={eng},
  issn={1096-7206},
  volume={105},
  number={4},
  note={Gesehen am 20.04.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2011.12.025},
}
@article{UBHD-68245120,
  author={Heintz, Caroline and Blau, Nenad},
  title={Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable},
  subtitle={molecular pathology of mutations in PAH exon 11},
  year={2012},
  pages={403-411},
  language={eng},
  issn={1096-7206},
  volume={106},
  number={4},
  note={Gesehen am 20.04.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2012.05.013},
}
@article{UBHD-68717776,
  author={Heintz, Caroline and Cotton, Richard G. H. and Blau, Nenad},
  title={Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria},
  year={2013},
  pages={927-936},
  language={eng},
  issn={1098-1004},
  volume={34},
  number={7},
  note={Gesehen am 29.03.2021},
  journal={Human mutation},
  doi={10.1002/humu.22320},
}
@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-68496538,
  author={Himmelreich, Nastassja and Montioli, Riccardo and Bertoldi, Mariarita and Carducci, Carla and Leuzzi, Vincenzo and Gemperle, Corinne and Berner, Todd and Hyland, Keith and Th{\"o}ny, Beat and Hoffmann, Georg F. and Voltattorni, Carla B. and Blau, Nenad},
  title={Aromatic amino acid decarboxylase deficiency},
  subtitle={Molecular and metabolic basis and therapeutic outlook},
  year={2019},
  pages={12-22},
  language={eng},
  issn={1096-7206},
  volume={127},
  number={1},
  note={Available online 27 March 2019 ; Gesehen am 04.03.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.03.009},
}
@article{UBHD-68476504,
  author={Himmelreich, Nastassja and Shen, Nan and Okun, J{\"u}rgen G. and Thiel, Christian and Hoffmann, Georg F. and Blau, Nenad},
  title={Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria},
  year={2018},
  pages={86-95},
  language={eng},
  issn={1096-7206},
  volume={125},
  number={1},
  note={Available online 23 June 2018 ; Gesehen am 15.01.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2018.06.011},
}
@article{UBHD-68576958,
  author={Horvath, Gabriela Ana and Stowe, Robert M. and Ferreira, Carlos R. and Blau, Nenad},
  title={Clinical and biochemical footprints of inherited metabolic diseases},
  subtitle={III. psychiatric presentations},
  year={2020},
  pages={1-6},
  language={eng},
  issn={1096-7206},
  volume={130},
  number={1},
  note={Gesehen am 14.05.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2020.02.007},
}
@article{UBHD-68098197,
  author={Jung-Klawitter, Sabine and Blau, Nenad and Opladen, Thomas},
  title={Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1},
  year={2017},
  pages={38-41},
  language={eng},
  issn={1876-7753},
  volume={20},
  note={Gesehen am 21.03.2017},
  journal={Stem cell research},
  doi={10.1016/j.scr.2017.02.010},
  url={http://dx.doi.org/10.1016/j.scr.2017.02.010},
  library={UB},
}
@article{UBHD-68067129,
  author={Jung-Klawitter, Sabine and Blau, Nenad and Opladen, Thomas},
  title={Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC},
  year={2016},
  pages={580-583},
  language={eng},
  issn={1876-7753},
  volume={17},
  number={3},
  note={Gesehen am 21.12.2016},
  journal={Stem cell research},
  doi={10.1016/j.scr.2016.10.008},
  url={http://dx.doi.org/10.1016/j.scr.2016.10.008},
  library={UB},
}
@article{UBHD-68392747,
  author={Jung, Kunwar and Himmelreich, Nastassja and Blau, Nenad},
  title={Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12},
  year={2019},
  pages={483-494},
  language={eng},
  issn={1098-1004},
  volume={40},
  number={4},
  note={Gesehen am 24.05.2019},
  journal={Human mutation},
  doi={10.1002/humu.23712},
}
@article{UBHD-68265312,
  author={Karin, Ivan and Opladen, Thomas and Blau, Nenad},
  title={Folinic acid therapy in cerebral folate deficiency},
  subtitle={marked improvement in an adult patient},
  year={2017},
  pages={578-582},
  language={eng},
  issn={1432-1459},
  volume={264},
  number={3},
  note={Published online: 4 January 2017 ; Gesehen am 26.06.2018},
  journal={Journal of neurology},
  doi={10.1007/s00415-016-8387-6},
}
@article{UBHD-68544007,
  author={Karnebeek, Clara D. M. van and Sayson, Bryan and Lee, Jessica J. Y. and Tseng, Laura A. and Blau, Nenad and Horvath, Gabriella A. and Ferreira, Carlos R.},
  title={Metabolic evaluation of epilepsy},
  subtitle={a diagnostic algorithm with focus on treatable conditions},
  year={2018},
  pages={12 S.},
  language={eng},
  issn={1664-2295},
  volume={9(2018) Artikel-Nummer 1016},
  number={12 Seiten},
  note={Gesehen am 19.03.2020},
  journal={Frontiers in neurology},
  doi={10.3389/fneur.2018.01016},
}
@article{UBHD-68727352,
  author={Keil, Stefanie and Anjema, Karen and Spronsen, Francjan J. van and Lambruschini, Nilo and Burlina, Alberto and Bélanger-Quintana, Amaya and Couce, Maria L. and Feillet, Francois and Cerone, Roberto and Lotz-Havla, Amelie S. and Muntau, Ania C. and Bosch, Annet M. and Meli, Concetta A. P. and Villemeur, Thierry Billette de and Kern, Ilse and Riva, Enrica and Giovannini, Marcello and Damaj, Lena and Leuzzi, Vincenzo and Blau, Nenad},
  title={Long-term follow-up and outcome of phenylketonuria patients on sapropterin},
  subtitle={a retrospective study},
  year={2013},
  pages={e1881-e1888},
  language={eng},
  issn={1098-4275},
  volume={131},
  number={6 vom: Juni},
  note={Gesehen am 23.04.2021},
  journal={Pediatrics},
  doi={10.1542/peds.2012-3291},
}
@article{UBHD-68647966,
  author={Klinke, Glynis and Richter, Sylvia and Monostori, Péter and Schmidt‐Mader, Brigitte and García‐Cazorla, Angels and Artuch, Rafael and Christ, Stine and Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad and Okun, J{\"u}rgen G.},
  title={Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform},
  year={2020},
  pages={712-725},
  language={eng},
  issn={1573-2665},
  volume={43},
  number={4},
  note={Gesehen am 13.10.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12213},
  url={https://doi.org/10.1002/jimd.12213},
  library={UB},
}
@article{UBHD-68579213,
  author={Korner, Germaine and Scherer, Tanja and Adamsen, Dea and Rebuffat, Alexander and Crabtree, Mark and Rassi, Anahita and Scavelli, Rossana and Homma, Daigo and Ledermann, Birgit and Konrad, Daniel and Ichinose, Hiroshi and Wolfrum, Christian and Horsch, Marion and Rathkolb, Birgit and Klingenspor, Martin and Beckers, Johannes and Wolf, Eckhard and Gailus‐Durner, Valérie and Fuchs, Helmut and Hrabě de Angelis, Martin and Blau, Nenad and Rozman, Jan and Th{\"o}ny, Beat},
  title={Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice},
  year={2016},
  pages={309-319},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={2},
  note={Gesehen am 19.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9909-6},
}
@article{UBHD-68492988,
  author={Lee, Jessica J.Y. and Blau, Nenad},
  title={Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism},
  year={2018},
  pages={151-158},
  language={eng},
  issn={1530-0366},
  volume={20},
  number={1},
  note={Published: 20 July 2017 ; Gesehen am 25.02.2020},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.108},
}
@article{UBHD-68492986,
  author={Lee, Jessica J.Y. and Blau, Nenad},
  title={Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis},
  year={2018},
  pages={555-562},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={3},
  note={Gesehen am 25.02.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0125-4},
}
@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},
}
@conference{UBHD-68098877,
  editor={Blau, Nenad},
  organization={Serono Symposia / European Phenyketonuria Group},
  title={Management of phenylketonuria},
  subtitle={current position; dedicated in memory of Dr. Richard Koch (1921 - 2011)$dEuropean Phenylketonuria Group. Guest eds.: Nenad Blau ...},
  publisher={Elsevier},
  address={Amsterdam},
  year={2011},
  pages={99 S.},
  language={eng},
  number={ARRAY(0x562f9f787e68)},
  series={Molecular genetics and metabolism},
}
@article{UBHD-68420554,
  author={Manti, Filippo and Nardecchia, Francesca and Blau, Nenad},
  title={Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism},
  year={2019},
  pages={207-210},
  language={eng},
  issn={1873-5126},
  volume={61},
  note={Available online 11 October 2018 ; Gesehen am 14.08.2019},
  journal={Parkinsonism & related disorders},
  doi={10.1016/j.parkreldis.2018.10.012},
}
@article{UBHD-68758138,
  author={Medici, Conrado and Varacchi, Claudio and Gonzalez, Gabriel and Lemes, Aida and Cerisola, Alfredo and Pedemonte, Virginia and Blau, Nenad},
  title={Unusual case of phenylketonuria with atypical brain magnetic resonance imaging findings},
  year={2013},
  pages={1496-1499},
  language={eng},
  issn={1708-8283},
  volume={28},
  number={11},
  note={First published September 10, 2012 ; Gesehen am 09.07.2021},
  journal={Journal of child neurology},
  doi={10.1177/0883073812457591},
}
@article{UBHD-68382170,
  author={Muniz, Joao R. C. and Himmelreich, Nastassja and Blau, Nenad},
  title={Role of protein structure in variant annotation},
  subtitle={structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency},
  year={2019},
  pages={274-280},
  language={eng},
  issn={1465-3931},
  volume={51},
  number={3},
  note={Gesehen am 24.04.2019},
  journal={Pathology},
  doi={10.1016/j.pathol.2018.11.011},
}
@article{UBHD-68263891,
  author={Nardecchia, Francesca and Blau, Nenad},
  title={Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency},
  year={2017},
  pages={917-924},
  language={eng},
  issn={1432-1076},
  volume={176},
  number={7},
  note={Published online: 24 May 2017 ; Gesehen am 21.06.2018},
  journal={European journal of pediatrics},
  doi={10.1007/s00431-017-2932-x},
}
@article{UBHD-68258268,
  author={Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad},
  title={An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia},
  year={2012},
  pages={963-973},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={6},
  note={Gesehen am 06.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9506-x},
}
@article{UBHD-68810784,
  author={Opladen, Thomas and Hoffmann, Georg F. and K{\"u}hn, Andrea and Blau, Nenad},
  title={Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia},
  year={2013},
  pages={195-197},
  language={eng},
  issn={1096-7206},
  volume={108},
  number={3},
  note={Gesehen am 09.12.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2013.01.001},
}
@article{UBHD-68210743,
  author={Pan, Yi and Shen, Nan and Jung-Klawitter, Sabine and Betzen, Christian and Hoffmann, Georg F. and Blau, Nenad},
  title={CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model},
  year={2016},
  pages={7 S.},
  language={eng},
  issn={2045-2322},
  volume={6(2016) Article number: 35794},
  number={7 Seiten},
  note={Gesehen am 17.01.2018},
  journal={Scientific reports},
  doi={10.1038/srep35794},
}
@book{UBHD-68098880,
  editor={Blau, Nenad and Duran, Marinus and Gibson, K. Michael and Dionisi Vici, Carlo},
  title={Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases},
  publisher={Springer Berlin Heidelberg},
  address={Berlin, Heidelberg ; s.l.},
  year={2014},
  pages={Online-Ressource (XLV, 867 p. 163 illus., 82 illus. in color, online resource)},
  language={eng},
  isbn={978-3-642-40337-8},
  series={SpringerLink : B{\"u}cher},
  note={Description based upon print version of record},
  doi={10.1007/978-3-642-40337-8},
  keywords={Stoffwechselkrankheit ; Stoffwechselkrankheit / Angeborene Krankheit / Therapie},
}
@book{UBHD-68098881,
  editor={Blau, Nenad and Duran, Marinus and Gibson, K. Michael and Dionisi-Vici, Carlo},
  title={Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases},
  publisher={Springer},
  address={Heidelberg ; New York ; Dordrecht ; London},
  year={2014},
  pages={XLV, 867 S.},
  language={eng},
  isbn={3-642-40336-0 and 978-3-642-40336-1},
  note={Literaturangaben},
  keywords={Stoffwechselkrankheit ; Stoffwechselkrankheit / Angeborene Krankheit / Therapie},
}
@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-68494910,
  author={Shen, Nan and Heintz, Caroline and Thiel, Christian and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Blau, Nenad},
  title={Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation},
  year={2016},
  pages={328-335},
  language={eng},
  issn={1096-7206},
  volume={117},
  number={3},
  note={Gesehen am 28.02.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2016.01.004},
}
@article{UBHD-67846894,
  author={Šimaitė, Deimantė and Hoffmann, Georg F. and Blau, Nenad},
  title={Recessive mutations in PCBD1 cause a new type of early-onset diabetes},
  year={2014},
  pages={3557-3564},
  language={eng},
  issn={1939-327X},
  volume={63},
  number={10},
  note={Gesehen am 16.07.2015},
  journal={Diabetes},
  doi={10.2337/db13-1784},
}
@article{UBHD-68440229,
  author={Sjaastad, Ottar and Blau, Nenad and Rydning, S. L. and Peters, Verena and Rødningen, O. and Stray‐Pedersen, A. and Krossnes, B. and Tallaksen, C. and Koht, J.},
  title={Homocarnosinosis},
  subtitle={a historical update and findings in the SPG11 gene},
  year={2018},
  pages={245-250},
  language={eng},
  issn={1600-0404},
  volume={138},
  number={3},
  note={Gesehen am 14.10.2019},
  journal={Acta neurologica Scandinavica},
  doi={10.1111/ane.12949},
}
@article{UBHD-68463853,
  author={Smith, Neil and Blau, Nenad},
  title={Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers},
  year={2019},
  pages={406-412},
  language={eng},
  issn={1096-7206},
  volume={126},
  number={4},
  note={Gesehen am 04.12.2019},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.02.001},
}
@article{UBHD-68477631,
  author={Smith, Neil and Longo, Nicola and Levert, Keith and Hyland, Keith and Blau, Nenad},
  title={Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers},
  year={2019},
  language={eng},
  issn={2214-4269},
  volume={21(2019) Artikel-Nummer 100500},
  number={3 Seiten},
  note={Gesehen am 17.01.2019},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2019.100500},
}
@article{UBHD-68556374,
  author={Spronsen, F. J. van and Himmelreich, Nastassja and R{\"u}fenacht, Véronique and Shen, Nan and Vliet, Danique van and Al-Owain, Mohammed and Ramzan, Khushnooda and Alkhalifi, Salwa M. and Lunsing, Roelineke J. and Heiner-Fokkema, Rebecca M. and Rassi, Anahita and Gemperle-Britschgi, Corinne and Hoffmann, Georg F. and Blau, Nenad and Th{\"o}ny, Beat},
  title={Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia},
  subtitle={from attention deficit to severe dystonia and intellectual disability},
  year={2018},
  pages={249-253},
  language={eng},
  issn={1468-6244},
  volume={55},
  number={4},
  note={Gesehen am 23.03.2020 ; Published online first 9 August 2017},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2017-104875},
}
@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-68248405,
  author={Straniero, Letizia and Blau, Nenad},
  title={DNAJC12 and dopa-responsive nonprogressive parkinsonism},
  year={2017},
  pages={640-646},
  language={eng},
  issn={1531-8249},
  volume={82},
  number={4},
  note={Gesehen am 26.08.2020},
  journal={Annals of neurology},
  doi={10.1002/ana.25048},
}
@article{UBHD-68978648,
  author={Tasic, Velibor and Lozanovski, Vladimir J. and Gucev, Zoran and Blau, Nenad and Cheong, Hae Il and Sayer, John A.},
  title={Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly},
  subtitle={questions},
  year={2011},
  pages={2153-2154},
  language={eng},
  issn={1432-198X},
  volume={26},
  number={12},
  note={Gesehen am 26.10.2022},
  journal={Pediatric nephrology},
  doi={10.1007/s00467-011-1786-0},
}
@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},
}
@article{UBHD-68163310,
  author={Trunzo, Roberta and Shen, Nan and Jung-Klawitter, Sabine and Blau, Nenad},
  title={In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU},
  year={2016},
  pages={138-143},
  language={eng},
  issn={1879-0038},
  volume={594},
  number={1},
  note={Gesehen am 07.09.2017},
  journal={Gene},
  doi={10.1016/j.gene.2016.09.015},
}
@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-68399954,
  author={Wang, Ruifang and Blau, Nenad},
  title={Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population},
  year={2018},
  pages={132-138},
  language={eng},
  issn={1873-3492},
  volume={481},
  note={Gesehen am 19.06.2019},
  journal={Clinica chimica acta},
  doi={10.1016/j.cca.2018.02.035},
}
@article{UBHD-68081729,
  author={Wassenberg, Tessa and Jeltsch, Kathrin and Hoffmann, Georg F. and Assmann, Birgit and Blau, Nenad and Opladen, Thomas},
  title={Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency},
  year={2017},
  language={eng},
  issn={1750-1172},
  volume={12(2017) Artikel-Nummer 12},
  number={21 Seiten},
  note={Gesehen am 08.02.2017},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-016-0522-z},
  url={http://dx.doi.org/10.1186/s13023-016-0522-z},
  library={UB},
}
@book{UBHD-68089929,
  author={Wassenberg, Tessa and Jeltsch, Kathrin and Hoffmann, Georg F. and Assmann, Birgit and Blau, Nenad and Opladen, Thomas},
  title={Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency},
  publisher={BioMed Central},
  address={London},
  year={2017},
  pages={1 Online-Ressource (21 Seiten)},
  language={eng},
  note={Wissenschaftlicher Aufsatz aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 12. pp. 1-21. ISSN 1750-1172},
  doi={10.1186/s13023-016-0522-z},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-225085},
  library={UB},
}
@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-68053207,
  author={Wettstein, Sarah Beatrice and Blau, Nenad},
  title={Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria},
  year={2015},
  pages={302-309},
  language={eng},
  issn={1476-5438},
  volume={23},
  number={3},
  note={Published online: 18 June 2014 ; Gesehen am 21.11.2016},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2014.114},
}
@article{UBHD-68503864,
  author={Zastrow, Diane B. and Baudet, Heather and Shen, Wei and Thomas, Amanda and Si, Yue and Weaver, Meredith A. and Lager, Angela M. and Liu, Jixia and Mangels, Rachel and Dwight, Selina S. and Wright, Matt W. and Dobrowolski, Steven F. and Eilbeck, Karen and Enns, Gregory M. and Feigenbaum, Annette and Lichter‐Konecki, Uta and Lyon, Elaine and Pasquali, Marzia and Watson, Michael and Blau, Nenad and Steiner, Robert D. and Craigen, William J. and Mao, Rong},
  title={Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM)},
  subtitle={the ClinGen IEM Working Group and the phenylalanine hydroxylase gene},
  year={2018},
  pages={1569-1580},
  language={eng},
  issn={1098-1004},
  volume={39},
  number={11},
  note={Gesehen am 11.03.2020},
  journal={Human mutation},
  doi={10.1002/humu.23649},
}
@article{UBHD-68647364,
  author={Zielonka, Matthias and Makhseed, Nawal and Blau, Nenad and Bettendorf, Markus and Hoffmann, Georg F. and Opladen, Thomas},
  title={Dopamine-responsive growth-hormone deficiency and central hypothyroidism in sepiapterin reductase deficiency},
  year={2015},
  pages={109-113},
  language={eng},
  issn={2192-8312},
  volume={24},
  note={Gesehen am 12.10.2020},
  journal={JIMD reports},
  doi={10.1007/8904_2015_450},
}