Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter meta...

by Neil Smith, Nicola Longo, Keith Levert, Keith Hyland, Nenad Blau
Published 2019-12-01

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1

by Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen
Published 2017-04-01

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

by Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Bryan Sayson, Jessica J. Y. Lee, Laura A. Tseng, Nenad Blau, Nenad Blau, Gabriella A. Horvath, Carlos R. Ferreira, Carlos R. Ferreira
Published 2018-12-01

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

by Hardo Lilleväli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap
Published 2020-04-01

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

by Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Kefah Al Qaqa, Momen Al Aqeel, Cristiana Artiola, Manuela Tolve, Sirio D'Amici, Nan Shen, Yongguo Yu, Alicia Hillert, Nastassja Himmelreich, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau
Published 2020-09-01

Can untreated PKU patients escape from intellectual disability? A systematic review

by Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Published 2018-08-01