Risultati della ricerca - Nenad Blau

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  1. 1
    Genetics of Phenylketonuria: Then and Now

    Genetics of Phenylketonuria: Then and Now di Nenad Blau

    Pubblicazione 2016
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  2. 2
    THE DETERMINATION OF THYROXINE IN THE THYROID GLAND

    THE DETERMINATION OF THYROXINE IN THE THYROID GLAND di Nenad Blau

    Pubblicazione 1933
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  3. 3
    Mutations in the BH<sub>4</sub>-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

    Mutations in the BH<sub>4</sub>-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteri... di Beat Thöny, Nenad Blau

    Pubblicazione 2006
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  4. 4
    Cerebral folate deficiency

    Cerebral folate deficiency di V. Ramaekers, Nenad Blau

    Pubblicazione 2004
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  5. 5
    Mutations in human monoamine-related neurotransmitter pathway genes

    Mutations in human monoamine-related neurotransmitter pathway genes di Jan Haavik, Nenad Blau, Beat Thöny

    Pubblicazione 2008
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  6. 6
    Tetrahydrobiopterin biosynthesis, regeneration and functions

    Tetrahydrobiopterin biosynthesis, regeneration and functions di Beat Thöny, Günter Auerbach, Nenad Blau

    Pubblicazione 2000
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  7. 7
    Tetrahydrobiopterin biosynthesis, regeneration and functions

    Tetrahydrobiopterin biosynthesis, regeneration and functions di Beat Thöny, Günter AUERBACH, Nenad Blau

    Pubblicazione 2000
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  8. 8
    Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases

    Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases di Carlos R. Ferreira, David Cassiman, Nenad Blau

    Pubblicazione 2019
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  9. 9
    Psychomotor Retardation, Spastic Paraplegia, Cerebellar Ataxia and Dyskinesia Associated with Low 5-Methyltetrahydrofolate in Cerebrospinal Fluid: A Novel Neurometabolic Condition Responding to Folinic Acid Substitution

    Psychomotor Retardation, Spastic Paraplegia, Cerebellar Ataxia and Dyskinesia Associated with Low 5-Methyltetrahydrofolate in Cerebrospinal Fluid: A Novel Neurometabolic Condition... di V. Ramaekers, Martin Häusler, Thomas Opladen, G. Heimann, Nenad Blau

    Pubblicazione 2003
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  10. 10
    Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

    Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies di Nenad Blau, Julia B. Hennermann, Ulrich Langenbeck, Uta Lichter‐Konecki

    Pubblicazione 2011
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  11. 11
    A milk‐free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome

    A milk‐free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome di V. Ramaekers, Jeffrey M. Sequeira, Nenad Blau, Edward V. Quadros

    Pubblicazione 2008
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  12. 12
    Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

    Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia di Luisa Bonafé, Beat Thöny, Johann Penzien, B Czarnecki, Nenad Blau

    Pubblicazione 2001
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  13. 13
    Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts

    Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts di Luisa Bonafé, Beat Thöny, W. Leimbacher, L. Kierat, Nenad Blau

    Pubblicazione 2001
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  14. 14
    A proposed nosology of inborn errors of metabolism

    A proposed nosology of inborn errors of metabolism di Carlos R. Ferreira, Clara van Karnebeek, Jerry Vockley, Nenad Blau

    Pubblicazione 2018
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  15. 15
    Folate Receptor Autoimmunity and Cerebral Folate Deficiency in Low-Functioning Autism with Neurological Deficits

    Folate Receptor Autoimmunity and Cerebral Folate Deficiency in Low-Functioning Autism with Neurological Deficits di V. Ramaekers, Nenad Blau, J.M. Sequeira, Marie‐Cécile Nassogne, E. Quadros

    Pubblicazione 2007
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  16. 16
    Regulation of the L‐arginine‐dependent and tetrahydrobiopterin‐dependent biosynthesis of nitric oxide in murine macrophages

    Regulation of the L‐arginine‐dependent and tetrahydrobiopterin‐dependent biosynthesis of nitric oxide in murine macrophages di Gabriele Schoedon, Markus Schneemann, Simone Hofer, Lourdes Guerrero, Nenad Blau, Andreas Schaffner

    Pubblicazione 1993
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  17. 17
    Nitric Oxide Synthase Is Not a Constituent of the Antimicrobial Armature of Human Mononuclear Phagocytes

    Nitric Oxide Synthase Is Not a Constituent of the Antimicrobial Armature of Human Mononuclear Phagocytes di Markus Schneemann, Gabriele Schoedon, Simone Hofer, Nenad Blau, L Guerrero, Andreas Schaffner

    Pubblicazione 1993
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  18. 18
    Gene Expression Profiling of Inflamed Human Endothelial Cells and Influence of Activated Protein C

    Gene Expression Profiling of Inflamed Human Endothelial Cells and Influence of Activated Protein C di Nicola Franscini, Esther Bächli, Nenad Blau, Maria-Sybille Leikauf, Andreas Schaffner, Gabriele Schoedon

    Pubblicazione 2004
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  19. 19
    Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

    Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology di Bobby G. Ng, Hudson H. Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R. Ferreira

    Pubblicazione 2024
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  20. 20
    Cerebral folate deficiency and CNS inflammatory markers in Alpers disease

    Cerebral folate deficiency and CNS inflammatory markers in Alpers disease di Oswald Hasselmann, Nenad Blau, V. Ramaekers, Edward V. Quadros, J.M. Sequeira, M Weissert

    Pubblicazione 2009
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