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Garbade, Sven F; Shen, Nan; Himmelreich, Nastassja; Haas, Dorothea; Trefz, Friedrich K; Hoffmann, Georg F; Burgard, Peter; Blau, Nenad (2019). Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Genetics in Medicine, 21(3):580-590.

Ferreira, Carlos R; van Karnebeek, Clara D M; Vockley, Jerry; Blau, Nenad (2019). A proposed nosology of inborn errors of metabolism. Genetics in Medicine, 21(1):102-106.

van Karnebeek, Clara D M; Sayson, Bryan; Lee, Jessica J Y; Tseng, Laura A; Blau, Nenad; Horvath, Gabriella A; Ferreira, Carlos R (2018). Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions. Frontiers in Neurology, 9:1016.

van Vliet, Danique; van Wegberg, Annemiek M J; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Federico, Antonio; Feillet, François; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L; Hollak, Carla E M; Jørgensen, Jens V; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan Ö; Nardecchia, Francesca; Õunap, Katrin; Powell, Kimberly K; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljkovic, Maja; Trefz, Fritz K; Usurelu, Natalia; Wilson, Callum; can Karnebeek, Clara D; Hanley, William B; van Spronsen, Francjan J (2018). Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet Journal of Rare Diseases, 13(1):149.

Zastrow, Diane B; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A; Lager, Angela M; Liu, Jixia; Mangels, Rachel; Dwight, Selina S; Wright, Matt W; Dobrowolski, Steven F; Eilbeck, Karen; Enns, Gregory M; Feigenbaum, Annette; Lichter-Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Watson, Michael; Blau, Nenad; Steiner, Robert D; Craigen, William J; Mao, Rong (2018). Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Human Mutation, 39(11):1569-1580.

Himmelreich, Nastassja; Shen, Nan; Okun, Jürgen G; Thiel, Christian; Hoffmann, Georg F; Blau, Nenad (2018). Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria. Molecular Genetics and Metabolism, 125(1-2):86-95.

Fernández-Lainez, Cynthia; Ibarra-González, Isabel; Alcántara-Ortigoza, Miguel Ángel; Fernández-Hernández, Liliana; Enríquez-Flores, Sergio; González-Del Ángel, Ariadna; Blau, Nenad; Thöny, Beat; Guillén-López, Sara; Belmont-Martínez, Leticia; Ruiz-García, Matilde; Vela-Amieva, Marcela (2018). Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico. Brain & Development, 40(7):530-536.

Wang, Ruifang; Shen, Nan; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Zhang, Huiwen; Liang, Lili; Sun, Yu; Fan, Yanjie; Wang, Lili; Wang, Yu; Gong, Zhuwen; Liu, Huili; Wang, Jianguo; Yan, Hui; Blau, Nenad; Gu, Xuefan; Yu, Yongguo (2018). Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. Clinica Chimica Acta, 481:132-138.

Lee, Jessica J Y; Gottlieb, Michael M; Lever, Jake; Jones, Steven J M; Blau, Nenad; van Karnebeek, Clara D M; Wasserman, Wyeth W (2018). Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis. Journal of Inherited Metabolic Disease, 41(3):555-562.

Wevers, Ron A; Blau, Nenad (2018). Think big — think omics. Journal of Inherited Metabolic Disease, 41(3):281-283.

Lee, Jessica J Y; Wasserman, Wyeth W; Hoffmann, Georg F; van Karnebeek, Clara D M; Blau, Nenad (2018). Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism. Genetics in Medicine, 20(1):151-158.

Blau, Nenad; Martinez, Aurora; Hoffmann, Georg F; Thöny, Beat (2018). DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. Molecular Genetics and Metabolism, 123(1):1-5.

van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat (2018). Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Journal of Medical Genetics, 55(4):249-253.

van Wegberg, A M J; MacDonald, A; Ahring, K; Bélanger-Quintana, A; Blau, Nenad; Bosch, A M; Burlina, A; Campistol, J; Feillet, F; Giżewska, M; Huijbregts, S C; Kearney, S; Leuzzi, V; Maillot, F; Muntau, A C; van Rijn, M; Trefz, F; Walter, J H; van Spronsen, F J (2017). The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet Journal of Rare Diseases, 12(1):162.

Straniero, Letizia; Guella, Ilaria; Cilia, Roberto; Parkkinen, Laura; Rimoldi, Valeria; Young, Alexander; Asselta, Rosanna; Soldà, Giulia; Sossi, Vesna; Stoessl, A Jon; Priori, Alberto; Nishioka, Kenya; Hattori, Nobutaka; Follett, Jordan; Rajput, Alex; Blau, Nenad; Pezzoli, Gianni; Farrer, Matthew J; Goldwurm, Stefano; Rajput, Ali H; Duga, Stefano (2017). DNAJC12 and dopa-responsive nonprogressive parkinsonism. Annals of Neurology, 82(4):640-646.

van Spronsen, Francjan J; van Wegberg, Annemiek Mj; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Giżewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, Fritz K; van Rijn, Margreet; Walter, John H; MacDonald, Anita (2017). Key European guidelines for the diagnosis and management of patients with phenylketonuria. The Lancet. Diabetes & Endocrinology, 5(9):743-756.

Nardecchia, Francesca; Chiarotti, Flavia; Carducci, Claudia; Santagata, Silvia; Valentini, Giulia; Angeloni, Antonio; Blau, Nenad; Leuzzi, Vincenzo (2017). Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency. European Journal of Pediatrics, 176(7):917-924.

Jung-Klawitter, Sabine; Ebersold, Juliane; Göhring, Gudrun; Blau, Nenad; Opladen, Thomas (2017). Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1. Stem Cell Research, 20:38-41.

Karin, Ivan; Borggraefe, Ingo; Catarino, Claudia B; Kuhm, Christoph; Hoertnagel, Konstanze; Biskup, Saskia; Opladen, Thomas; Blau, Nenad; Heinen, Florian; Klopstock, Thomas (2017). Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. Journal of Neurology, 264(3):578-582.

Anikster, Yair; Haack, Tobias B; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L; Paulo, Joao A; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Rémy; Strom, Tim M; Meitinger, Thomas; Mullikin, James C; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A; Harper, J Wade; Blau, Nenad; Hoffmann, Georg F; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics, 100(2):257-266.

Wassenberg, Tessa; Molero-Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F; Assmann, Birgit; Blau, Nenad; Garcia-Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L; Lee, Wang Tso; Kurian, Manju A; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, Michèl; Opladen, Thomas (2017). Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases, 12(1):12.

Trunzo, Roberta; Santacroce, Rosa; Shen, Nan; Jung-Klawitter, Sabine; Leccese, Angelica; De Girolamo, Giuseppe; Margaglione, Maurizio; Blau, Nenad (2016). In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU. Gene, 594(1):138-143.

Pan, Yi; Shen, Nan; Jung-Klawitter, Sabine; Betzen, Christian; Hoffmann, Georg F; Hoheisel, Jörg D; Blau, Nenad (2016). CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model. Scientific Reports, 6:35794.

Jung-Klawitter, Sabine; Blau, Nenad; Sebe, Attila; Ebersold, Juliane; Göhring, Gudrun; Opladen, Thomas (2016). Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC. Stem Cell Research, 17(3):580-583.

Delmelle, Françoise; Thöny, Beat; Clapuyt, Philippe; Blau, Nenad; Nassogne, Marie-Cécile (2016). Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation. European Journal of Paediatric Neurology, 20(5):709-713.

Blau, Nenad (2016). Genetics of phenylketonuria: then and now. Human Mutation, 37(6):508-515.

Shen, Nan; Heintz, Caroline; Thiel, Christian; Okun, Jürgen G; Hoffmann, Georg F; Blau, Nenad (2016). Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. Molecular Genetics and Metabolism, 117(3):328-335.

Korner, Germaine; Scherer, Tanja; Adamsen, Dea; Rebuffat, Alexander; Crabtree, Mark; Rassi, Anahita; Scavelli, Rossana; Homma, Daigo; Ledermann, Birgit; Konrad, Daniel; Ichinose, Hiroshi; Wolfrum, Christian; Horsch, Marion; Rathkolb, Birgit; Klingenspor, Martin; Beckers, Johannes; Wolf, Eckhard; Gailus-Durner, Valérie; Fuchs, Helmut; Hrabě de Angelis, Martin; Blau, Nenad; Rozman, Jan; Thöny, Beat (2016). Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice. Journal of Inherited Metabolic Disease, 39(2):309-319.

Giżewska, Maria; MacDonald, Anita; Bélanger-Quintana, Amaya; Burlina, Alberto; Cleary, Maureen; Coşkun, Turgay; Feillet, François; Muntau, Ania C; Trefz, Friedrich K; van Spronsen, Francjan J; Blau, Nenad (2016). Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results. European Journal of Pediatrics, 175(2):261-272.

Roze, Emmanuel; Blau, Nenad (2016). Biogenic monoamine disorders. In: Hollak, Carla E M; Lachmann, Robin H. Inherited metabolic disease in adults : a clinical guide. Oxford: Oxford University Press, 203-208.

Blau, Nenad (2016). Diagnosis of hyperphenylalaninemias. In: Blau, Nenad. Phenylketonuria and BH4 Deficiencies. Bremen: UNI-MED Verlag AG, 42-52.

Blau, Nenad (2016). Genetics of PKU. In: Blau, Nenad. Phenylketonuria and BH4 Deficiencies. Bremen: UNI-MED Verlag AG, 53-58.

Phenylketonuria and BH4 Deficiencies. Edited by: Blau, Nenad; Burlina, Alberto B; Burton, Barbara K; Levy, Harvey L; Longo, Nicola; MacDonald, Anita; Martinez, Aurora; van Spronsen, Francjan J; Thöny, Beat (2016). Bremen: UNI-MED Verlag AG.

Blau, Nenad; Shen, Nan; Carducci, Carla (2014). Molecular genetics and diagnosis of phenylketonuria: State of the art. Expert Review of Molecular Diagnostics, 14(6):655-671.

Camp, Kathryn M; Parisi, Melissa A; Acosta, Phyllis B; Berry, Gerard T; Bilder, Deborah A; Blau, Nenad; Bodamer, Olaf A; Brosco, Jeffrey P; Brown, Christine S; Burlina, Alberto B; Burton, Barbara K; Chang, Christine S; Coates, Paul M; Cunningham, Amy C; Dobrowolski, Steven F; Ferguson, John H; Franklin, Thomas D; Frazier, Dianne M; Grange, Dorothy K; Greene, Carol L; Groft, Stephen C; Harding, Cary O; Howell, R Rodney; Huntington, Kathleen L; Hyatt-Knorr, Henrietta D; Jevaji, Indira P; Levy, Harvey L; Lichter-Konecki, Uta; Lindegren, Mary Lou; Lloyd-Puryear, Michele A; Matalon, Kimberlee; MacDonald, Anita; McPheeters, Melissa L; Mitchell, John J; Mofidi, Shideh; Moseley, Kathryn D; Mueller, Christine M; Mulberg, Andrew E; Nerurkar, Lata S; Ogata, Beth N; Pariser, Anne R; Prasad, Suyash; Pridjian, Gabriella; Rasmussen, Sonja A; Reddy, Uma M; Rohr, Frances J; Singh, Rani H; Sirrs, Sandra M; Stremer, Stephanie E; Tagle, Danilo A; Thompson, Susan M; Urv, Tiina K; Utz, Jeanine R; van Spronsen, Francjan; Vockley, Jerry; Waisbren, Susan E; Weglicki, Linda S; White, Desirée A; Whitley, Chester B; Wilfond, Benjamin S; Yannicelli, Steven; Young, Justin M (2014). Phenylketonuria scientific review Conference: State of the science and future research needs. Molecular Genetics and Metabolism, 112(2):87-122.

Hoffmann, F G; Blau, Nenad (2014). Congenital Neurotransmitter Disorders: A Clinical Approach. Huppauge, NY: Nova Publishers. Inc..

Blau, Nenad; Hyland, K; Hoffmann, F G (2014). Disorders in catabolism of biogenic amines. In: Hoffmann, F G; Blau, Nenad. Congenital Nueurotransmitter Disorders: A Clinical Approach. s.n.: Nova Science Pub Inc, n/a.

Blau, Nenad; Dionisi-Vici, Carlo (2014). Disorders of Glutathione and y-Glutamyl Cycle. In: Blau, Nenad; Duran, Marinus; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. s.n.: Springer-Verlag, 661-669.

Blau, Nenad; van Spronsen, Francjan J (2014). Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism. In: Blau, N; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. s.n.: Springer-Verlag, 3-21.

Haeberle, Johannes; Rubio, Vicente (2014). Hyperammonemias and related disorders. In: Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Heidelberg: Springer Verlag, 47-62.

Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, C (2014). Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. Heidelberg-Berlin: Springer.

Blau, Nenad; Hoffmann, F G (2014). Signs and symptoms of neurotransmitter disorders: approach to diagnosis. In: Hoffmann, F G; Blau, Nenad. Congenital Neurotransmitter Disorders: A Clinical Approach. s.n.: Nova Science Pub Inc, n/a.

Burlina, A; Blau, Nenad (2014). Tetrahydrobiopterin disorders presenting with hyperphenylalaninemia. In: Hoffmann, F G; Blau, Nenad. Congenital Neurotransmitter Disorders: A Clinical Approach. s.n.: Nova Science Pub Inc, n/a.

Baumgartner, Matthias; Fowler, Brian (2014). Vitamin B12 Disorders. In: Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases. Berlin: Springer Verlag, 205-218.

Cleary, Maureen; Trefz, Friedrich; Muntau, Ania C; Feillet, François; van Spronsen, Francjan J; Burlina, Alberto; Bélanger-Quintana, Amaya; Giżewska, Maria; Gasteyger, Christoph; Bettiol, Esther; Blau, Nenad; MacDonald, Anita (2013). Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. Molecular Genetics and Metabolism, 110(4):418-423.

Keil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; Burlina, Alberto; Bélanger-Quintana, Amaya; Couce, Maria L; Feillet, Francois; Cerone, Roberto; Lotz-Havla, Amelie S; Muntau, Ania C; Bosch, Annet M; Meli, Concetta A P; Billette de Villemeur, Thierry; Kern, Ilse; Riva, Enrica; Giovannini, Marcello; Damaj, Lena; Leuzzi, Vincenzo; Blau, Nenad (2013). Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics, 131(6):e1881-e1888.

Opladen, Thomas; Hoffmann, Georg F; Kühn, Andrea A; Blau, Nenad (2013). Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Molecular Genetics and Metabolism, 108(3):195-197.

Blau, Nenad (2013). Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert Opinion on Drug Metabolism & Toxicology, 9(9):1207-1218.

Anjema, Karen; van Rijn, Margreet; Hofstede, Floris C; Bosch, Annet M; Hollak, Carla Em; Rubio-Gozalbo, Estela; de Vries, Maaike C; Janssen, Mirian Ch; Boelen, Carolien Ca; Burgerhof, Johannes Gm; Blau, Nenad; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J (2013). Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet Journal of Rare Diseases, 8:103.

Heintz, Caroline; Cotton, Richard G H; Blau, Nenad (2013). Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Human Mutation, 34(7):927-936.

Heintz, Caroline; Troxler, Heinz; Martinez, Aurora; Thöny, Beat; Blau, Nenad (2012). Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Molecular Genetics and Metabolism, 105(4):559-665.

Friedman, Jennifer; Roze, Emmanuel; Abdenur, Jose E; Chang, Richard; Gasperini, Serena; Saletti, Veronica; Wali, Gurusidheshwar M; Eiroa, Hernan; Neville, Brian; Felice, Alex; Parascandalo, Ray; Zafeiriou, Dimitrios I; Arrabal-Fernandez, Luisa; Dill, Patricia; Eichler, Florian S; Echenne, Bernard; Gutierrez-Solana, Luis G; Hoffmann, Georg F; Hyland, Keith; Kusmierska, Katarzyna; Tijssen, Marina A J; Lutz, Thomas; Mazzuca, Michel; Penzien, Johann; Poll-The, Bwee Tien; Sykut-Cegielska, Jolanta; Szymanska, Krystyna; Thöny, Beat; Blau, Nenad (2012). Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy. Annals of Neurology, 71(4):520-530.

Heintz, Caroline; Dobrowolski, Steven F; Andersen, Henriette Skovgaard; Demirkol, Mübeccel; Blau, Nenad; Andresen, Brage Storstein (2012). Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. Molecular Genetics and Metabolism, 106(4):403-411.

Opladen, Thomas; Abu Seda, Bettina; Rassi, Anahita; Thöny, Beat; Hoffmann, Georg F; Blau, Nenad (2011). Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. Journal of Inherited Metabolic Disease, 34(3):843.

Fuchs, Dietmar; Blau, Nenad (2009). Hans-Christoph Curtius, Obituary. Pteridines, 20(1):136-137.

Blau, Nenad (2008). Defining tetrahydrobiopterin (BH4)-responsiveness in PKU. Journal of Inherited Metabolic Disease, 31(1):2-3.

Suormala, Terttu; Baumgartner, Matthias; Fowler, Brian (2008). Biotinidase. In: Blau, Nenad; Duran, Marinus; Gibson, K Michael. Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer Verlag, 253-264.

Opladen, Thomas; Zurflüh, Marcel; Kern, Ilse; Kierat, Lucja; Thöny, Beat; Blau, Nenad (2005). Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria. European Journal of Pediatrics, 164(6):395-396.

Kluge, Claudia; Leimbacher, Walter; Heizmann, Claus W; Blau, Nenad; Thöny, Beat (1996). Isolation of 6-Pyruvoyl-tetrahydropterin Synthase cDNAs from Human Brain. Pteridines, 7(3):91-93.

de Sanctis, Luisa; Alliaudi, Carla; Spada, Marco; Cerone, Roberto; Biasucci, Giacomo; Blau, Nenad; Ponzone, Alberto; Dianzani, Irma (1996). Mutations and Phenotypes In Dihydropteridine Reductase Deficiency in Italy. Pteridines, 7(3):103-106.

Plüss, Christoph; Kunz, Dieter; Redweik, Udo; Blau, Nenad; Pfeilschifter, Josef (1995). Co-ordinate Expression of GTP Cyclohydrolase I and Inducible Nitric Oxide Synthase in Rat Mesangial Cells. Pteridines, 6(3):129-131.

Ichinose, Hiroshi; Blau, Nenad; Matalon, Reuben; Nagatsu, Toshiharu (1995). Genomic Organization of Mouse and Human GTP Cyclohydrolase I Genes and Mutations Found in the Human Gene. Pteridines, 6(3):104-107.

Oppliger, Tanja; Thony, Beat; Leimbacher, Walter; Scheibenreiter, Susanne; Brandt, Niels Jacob; Heizmann, Claus W; Blau, Nenad (1995). Mutation Analysis In Patients with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency. Pteridines, 6(3):141-143.

Blau, Nenad; Thöny, Beat; Heizmann, Claus W; Dhondt, Jean-Louis (1993). Tetrahydrobiopterin Deficiency: From Phenotype to Genotype. Pteridines, 4(1):1-10.

This list was generated on Mon Jun 24 22:47:59 2019 CEST.