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Medicine

D-Index
86
Citations
24606
World Ranking
14233
National Ranking
203

Overview

Nenad Blau is a researcher affiliated with the University of Zurich in Switzerland, focusing on fields related to biochemistry, genetics, and molecular biology. Their work spans 94 publications in these areas, complemented by 33 publications in medicine. Subfields include clinical biochemistry, molecular biology, biochemistry, genetics, and rheumatology.

Their research addresses a variety of topics with an emphasis on metabolism and genetic disorders, amino acid enzymes and metabolism, mitochondrial function and pathology, folate and B vitamins research, diet and metabolism studies, biochemical and molecular research, and genomics and rare diseases.

Among notable recent papers attributed to their group or collaborations are:

  • Phenylketonuria, 2021, Nature Reviews Disease Primers
  • The Genetic Landscape and Epidemiology of Phenylketonuria, 2020, The American Journal of Human Genetics
  • A noncoding RNA modulator potentiates phenylalanine metabolism in mice, 2021, Science
  • Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies, 2021, Molecular Genetics and Metabolism
  • Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology, 2024, Molecular Genetics and Metabolism

The primary venues for publications include Molecular Genetics and Metabolism, with 37 publications, along with contributions to Nature Reviews Disease Primers, The American Journal of Human Genetics, Science, and JIMD Reports.

Regular collaborators include Carlos R. Ferreira, Nastassja Himmelreich, Georg F. Hoffmann, Carla Carducci, and Belén Pérez, reflecting interdisciplinary teamwork within their research community.

In addition to journal articles, Nenad Blau has contributed to book publishing, with a title released by Cambridge University Press: "Movement Disorders and Inherited Metabolic Disorders" (2020).

Best Publications

  • Tetrahydrobiopterin biosynthesis, regeneration and functions.

    Beat Thöny;Günter Auerbach;Nenad Blau

  • The complete European guidelines on phenylketonuria: diagnosis and treatment

    A.M.J. van Wegberg;A. Macdonald;K. Ahring;A. Belanger-Quintana

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  • Tetrahydrobiopterin: biochemistry and pathophysiology.

    Ernst R. Werner;Nenad Blau;Beat Thöny

  • Nitric Oxide Synthase Is Not a Constituent of the Antimicrobial Armature of Human Mononuclear Phagocytes

    Markus Schneemann;Gabriele Schoedon;Simone Hofer;Nenad Blau

  • Key European guidelines for the diagnosis and management of patients with phenylketonuria

    Francjan J. van Spronsen;Annemiek M. J. van Wegberg;Kirsten Ahring;Amaya Belanger-Quintana

  • Epidermal H2O2 accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: Identification of a general mechanism in regulation of all 6BH4-Dependent processes?

    Karin U. Schallreuter;Jeremy Moore;John M. Wood;Wayne D. Beazley

  • Phenylketonuria Scientific Review Conference: state of the science and future research needs.

    Kathryn M. Camp;Melissa A. Parisi;Phyllis B. Acosta;Gerard T. Berry

  • Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

    Nenad Blau;Julia B. Hennermann;Ulrich Langenbeck;Uta Lichter-Konecki

  • Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

    Vincent T. Ramaekers;Sheldon P. Rothenberg;Jeffrey M. Sequeira;Thomas Opladen

  • Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

    Luisa Bonafé;Beat Thöny;Johann M. Penzien;Barbara Czarnecki

  • The neurochemistry of phenylketonuria.

    Robert Surtees;Nenad Blau

  • Cerebral folate deficiency.

    Vincent Th Ramaekers;Nenad Blau

  • Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

    L. Brun;L. H. Ngu;W. T. Keng;G. S. Ch'ng

  • Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses

    M. J. de Groot;M. Hoeksma;N. Blau;Dirk Reijngoud

  • Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia.

    Christoph Berger;Judith Uehlinger;Daniela Ghelfi;N. Blau

  • Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

    Beat Thöny;Nenad Blau

  • Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

    Superti-Furga A;Superti-Furga A;Hästbacka J;Wilcox Wr;Cohn Dh

  • A proposed nosology of inborn errors of metabolism

    Carlos R. Ferreira;Clara D.M. van Karnebeek;Clara D.M. van Karnebeek;Jerry Vockley;Nenad Blau

  • Laboratory guide to the methods in biochemical genetics

    Nenad Blau;Marinius Duran;K. Michael Gibson

Frequent Co-Authors

Beat Thöny
Beat Thöny University of Zurich
Georg F. Hoffmann
Georg F. Hoffmann University Hospital Heidelberg
Claus W. Heizmann
Claus W. Heizmann University of Zurich
Aurora Martinez
Aurora Martinez University of Bergen
Marcel M. Verbeek
Marcel M. Verbeek Radboud University
Ron A. Wevers
Ron A. Wevers Radboud University
Rafael Artuch
Rafael Artuch Instituto de Salud Carlos III
Jan Haavik
Jan Haavik University of Bergen
Marinus Duran
Marinus Duran University of Amsterdam
Nan Shen
Nan Shen Shanghai Jiao Tong University

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