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Nenad Blau
Nenad Blau
University Children's Hospital Zürich, Switzerland
在 uitikon.ch 的电子邮件经过验证 - 首页
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引用次数
引用次数
年份
Phenylketonuria
N Blau, FJ Van Spronsen, HL Levy
The Lancet 376 (9750), 1417-1427, 2010
13782010
Tetrahydrobiopterin biosynthesis, regeneration and functions
B Thöny, G Auerbach, N Blau
Biochemical Journal 347 (1), 1-16, 2000
10472000
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
7592017
Tetrahydrobiopterin: biochemistry and pathophysiology
ER Werner, N Blau, B Thöny
Biochemical journal 438 (3), 397-414, 2011
5062011
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
4772007
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
4512017
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
4321993
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
3572001
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
3252011
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
3112014
Disorders of Tetrahydrobiopterin and Rerated Biogenic Amines
N Blau
The metabolic & molecular bases of inherited disease, 1725-1776, 2002
3062002
Phenylketonuria
FJ van Spronsen, N Blau, C Harding, A Burlina, N Longo, AM Bosch
Nature reviews Disease primers 7 (1), 36, 2021
2952021
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
2872005
The neurochemistry of phenylketonuria
R Surtees, N Blau
European journal of pediatrics 159, S109-S113, 2000
2722000
Genetics of phenylketonuria: then and now
N Blau
Human mutation 37 (6), 508-515, 2016
2672016
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
2672001
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
2642010
Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia
C Berger, J Uehlinger, D Ghelfi, N Blau, S Fanconi
European journal of pediatrics 154, 138-144, 1995
2561995
Physician's guide to the laboratory diagnosis of metabolic diseases
N Blau
Springer Science & Business Media, 2003
2542003
Cerebral folate deficiency
VT Ramaekers, N Blau
Developmental medicine and child neurology 46 (12), 843-851, 2004
2532004
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