| Phenylketonuria N Blau, FJ Van Spronsen, HL Levy The Lancet 376 (9750), 1417-1427, 2010 | 1447 | 2010 |
| Tetrahydrobiopterin biosynthesis, regeneration and functions B Thöny, G Auerbach, N Blau Biochemical Journal 347 (1), 1-16, 2000 | 1073 | 2000 |
| The complete European guidelines on phenylketonuria: diagnosis and treatment AMJ Van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, ... Orphanet journal of rare diseases 12, 1-56, 2017 | 869 | 2017 |
| Tetrahydrobiopterin: biochemistry and pathophysiology ER Werner, N Blau, B Thöny Biochemical journal 438 (3), 397-414, 2011 | 540 | 2011 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 497 | 2007 |
| Key European guidelines for the diagnosis and management of patients with phenylketonuria FJ Van Spronsen, AMJ van Wegberg, K Ahring, A Bélanger-Quintana, ... The lancet Diabetes & endocrinology 5 (9), 743-756, 2017 | 491 | 2017 |
| Nitric oxide synthase is not a constituent of the antimicrobial armature of human mononuclear phagocytes M Schneemann, G Schoedon, S Hofer, N Blau, L Guerrero, A Schaffner Journal of Infectious Diseases 167 (6), 1358-1363, 1993 | 434 | 1993 |
| Phenylketonuria FJ van Spronsen, N Blau, C Harding, A Burlina, N Longo, AM Bosch Nature reviews Disease primers 7 (1), 36, 2021 | 377 | 2021 |
| Epidermal H2O2 accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: identification of a general mechanism in regulation of all 6BH4-dependent processes? KU Schallreuter, J Moore, JM Wood, WD Beazley, EMJ Peters, LK Marles, ... Journal of investigative dermatology 116 (1), 167-174, 2001 | 359 | 2001 |
| Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies N Blau, JB Hennermann, U Langenbeck, U Lichter-Konecki Molecular genetics and metabolism 104, S2-S9, 2011 | 349 | 2011 |
| Phenylketonuria Scientific Review Conference: state of the science and future research needs KM Camp, MA Parisi, PB Acosta, GT Berry, DA Bilder, N Blau, ... Molecular genetics and metabolism 112 (2), 87-122, 2014 | 321 | 2014 |
| Disorders of Tetrahydrobiopterin and Rerated Biogenic Amines N Blau The metabolic & molecular bases of inherited disease, 1725-1776, 2002 | 311 | 2002 |
| Autoantibodies to folate receptors in the cerebral folate deficiency syndrome VT Ramaekers, SP Rothenberg, JM Sequeira, T Opladen, N Blau, ... New England Journal of Medicine 352 (19), 1985-1991, 2005 | 295 | 2005 |
| Genetics of phenylketonuria: then and now N Blau Human mutation 37 (6), 508-515, 2016 | 283 | 2016 |
| The genetic landscape and epidemiology of phenylketonuria A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ... The American Journal of Human Genetics 107 (2), 234-250, 2020 | 280 | 2020 |
| Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses MJ De Groot, M Hoeksma, N Blau, DJ Reijngoud, FJ Van Spronsen Molecular Genetics and Metabolism 99, S86-S89, 2010 | 279 | 2010 |
| Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia L Bonafé, B Thöny, JM Penzien, B Czarnecki, N Blau The American Journal of Human Genetics 69 (2), 269-277, 2001 | 274 | 2001 |
| A proposed nosology of inborn errors of metabolism CR Ferreira, CDM van Karnebeek, J Vockley, N Blau Genetics in medicine 21 (1), 102-106, 2019 | 273 | 2019 |
| The neurochemistry of phenylketonuria R Surtees, N Blau European journal of pediatrics 159, S109-S113, 2000 | 269 | 2000 |
| Cerebral folate deficiency VT Ramaekers, N Blau Developmental medicine and child neurology 46 (12), 843-851, 2004 | 264 | 2004 |
Beat ThönyProfessor of Clincial Biochemistry, Department of Pediatrics, University of Zürich, SwitzerlandVerified email at kispi.uzh.ch
