N Blau

Summary

Affiliation: University of Zurich
Country: Switzerland

Publications

  1. ncbi Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, Zurich, 8032, Switzerland
    Mol Genet Metab 74:172-85. 2001
  2. ncbi Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue
    N Blau
    Division of Clinical Chemistry, University Children s Hospital, Zurich, Switzerland
    Clin Chim Acta 226:159-69. 1994
  3. ncbi Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    L Bonafe
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Clin Chem 47:477-85. 2001
  4. pmc Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
    L Bonafe
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, 8032 Zurich, Switzerland
    Am J Hum Genet 69:269-77. 2001
  5. ncbi Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies
    N Blau
    Division of Clinical Chemistry, University of Zurich, Zurich, Switzerland
    Biochem Mol Med 58:199-203. 1996
  6. ncbi Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency
    A Dudesek
    Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland
    Eur J Pediatr 160:267-76. 2001
  7. ncbi Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    J Inherit Metab Dis 22:216-20. 1999
  8. pmc Tetrahydrobiopterin biosynthesis, regeneration and functions
    B Thony
    Division of Clinical Chemistry, University Children s Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Biochem J 347:1-16. 2000
  9. ncbi Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Neurology 61:642-7. 2003
  10. ncbi Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency
    M R Zurflüh
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    J Inherit Metab Dis 29:725-31. 2006

Collaborators

Detail Information

Publications20

  1. ncbi Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, Zurich, 8032, Switzerland
    Mol Genet Metab 74:172-85. 2001
    ....
  2. ncbi Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue
    N Blau
    Division of Clinical Chemistry, University Children s Hospital, Zurich, Switzerland
    Clin Chim Acta 226:159-69. 1994
    ..As a consequence, pterins detected in amniotic fluid are of fetal origin and 6- and 7-substituted pterins can be present in amniotic fluid in higher proportions when compared with other body fluids...
  3. ncbi Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    L Bonafe
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Clin Chem 47:477-85. 2001
    ..The aim of the study was to determine the utility of cultured skin fibroblasts for the diagnosis of these diseases...
  4. pmc Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
    L Bonafe
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, 8032 Zurich, Switzerland
    Am J Hum Genet 69:269-77. 2001
    ..Thus, autosomal recessive SR deficiency leads to BH(4) and to neurotransmitter deficiencies without hyperphenylalaninemia and may not be detected by neonatal screening for phenylketonuria...
  5. ncbi Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies
    N Blau
    Division of Clinical Chemistry, University of Zurich, Zurich, Switzerland
    Biochem Mol Med 58:199-203. 1996
    ..Evidence was obtained for the in vivo involvement of xanthine dehydrogenase in the conversion of pterin to isoxanthopterin. This test could be a sensitive marker for the establishment of residual enzyme activity...
  6. ncbi Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency
    A Dudesek
    Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland
    Eur J Pediatr 160:267-76. 2001
    ..In patients initially diagnosed with the mild peripheral form of the disease, therapy with tetrahydrobiopterin should be stopped after some time to test whether hyperphenylalaninaemia was only a transient condition...
  7. ncbi Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    J Inherit Metab Dis 22:216-20. 1999
  8. pmc Tetrahydrobiopterin biosynthesis, regeneration and functions
    B Thony
    Division of Clinical Chemistry, University Children s Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Biochem J 347:1-16. 2000
    ..Furthermore, several neurological diseases, including Dopa-responsive dystonia, but also Alzheimer's disease, Parkinson's disease, autism and depression, have been suggested to be a consequence of restricted cofactor availability...
  9. ncbi Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Neurology 61:642-7. 2003
    ..To describe three unrelated children with a distinctive variant of Aicardi-Goutières syndrome (AGS) characterized by microcephaly, severe mental and motor retardation, dyskinesia or spasticity, and occasional seizures...
  10. ncbi Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency
    M R Zurflüh
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    J Inherit Metab Dis 29:725-31. 2006
    ..An additional 36 patients with mild hyperphenylalaninaemia (HPA) who underwent the combined loading test with Phe+BH(4) were all responders. Slow responders and non-responders were found in all groups of HPA...
  11. ncbi Treatable neurotransmitter deficiency in mild phenylketonuria
    L Bonafe
    Division of Clinical Chemistry, Department of Pediatrics, University Children s Hospital, Zurich, Switzerland
    Neurology 57:908-11. 2001
    ..This case demonstrates that even mild HPA, generally considered a benign disorder, may present neurologic impairment...
  12. doi Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis
    M Zimmermann
    Division of Metabolism, University Children s Hospital and Children s Research Center, Zurich, Switzerland
    Mol Genet Metab 106:264-8. 2012
    ..Thus, a simpler approach to dietary treatment of PKU available to all HPA patients is more likely to be accepted and adhered by patients and might also increase quality of life...
  13. ncbi Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
    B Thony
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Genet 103:162-7. 1998
    ..One sibling was found to be unaffected. These results further substantiate the idea that primapterinuria is associated with mutations in the PCBD gene...
  14. ncbi Induction of tetrahydrobiopterin synthesis in human umbilical vein smooth muscle cells by inflammatory stimuli
    R Walter
    Department of Medicine, University Hospital, Zurich, Switzerland
    Immunol Lett 60:13-7. 1998
    ..Our results show for the first time that BH4 biosynthesis is strongly induced by combinations of inflammatory stimuli in HUVSMC. The importance of BH4-dependent NO synthesis in HUVSMC needs, however, additional detailed studies...
  15. ncbi Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II
    T Scherer-Oppliger
    Department of Pediatrics, Division of Clinical Chemistry and Biochemistry, University of Zurich, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    J Biol Chem 274:31341-8. 1999
    ..These results suggest that Ser(19) of human PTPS may be a substrate for cGKII phosphorylation also in vivo, a modification that is essential for normal activity...
  16. ncbi Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
    T Scherer-Oppliger
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 13:286-9. 1999
    ..The specifically low PTPS activity in the mother's cells corroborated the evidence of a dominant negative effect of the maternal N47D allele on wild-type PTPS...
  17. ncbi Inhalation of the nitric oxide synthase cofactor tetrahydrobiopterin in healthy volunteers
    R Walter
    Department of Medicine, University Hospital, Zurich, Switzerland
    Am J Respir Crit Care Med 156:2006-10. 1997
    ..Our data demonstrate that inhalation is a novel method for local BH4 administration, offering a basic therapeutic tool for investigation of restoration of impaired NO-dependent vasodilation due to pulmonary endothelial dysfunction...
  18. pmc Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)
    B Thony
    Department of Pediatrics, University of Zurich, Zurich, Switzerland
    Am J Hum Genet 62:1302-11. 1998
    ..These data support the proposal that HPA in combination with urinary primapterin may be due to autosomal recessive inheritance of mutations in the PCBD gene specifically affecting the dehydratase activity...
  19. ncbi Dihydropteridine reductase deficiency localized to the central nervous system
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    J Inherit Metab Dis 21:433-4. 1998
  20. ncbi Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
    B Thony
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 10:11-20. 1997
    ....