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Nenad Blau & Nicola Longo. (2015) Alternative therapies to address the unmet medical needs of patients with phenylketonuria. Expert Opinion on Pharmacotherapy 16:6, pages 791-800.
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Nenad Blau. (2013)
Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert Opinion on Drug Metabolism & Toxicology 9:9, pages 1207-1218.
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Y. Henry Sun, Yueh-Lin Wu & Ben-Yang Liao. (2023) Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism. Journal of Biomedical Science 30:1.
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Chunru Lin, Yajuan Li, Eric Zhang, François Feillet, Shuxing Zhang & Nenad Blau. (2022) Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria. Molecular Genetics and Metabolism 135:3, pages 171-178.
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Fernanda Medeiros Sebastião, Maira Graeff Burin, Gabriel Civallero, Kristiane Michelin Tirelli, Angela Sitta, Daniella de Moura Coelho, Carmen Regla Vargas, Moacir Wajner, Roberto Giugliani, Fernanda Hendges de Bitencourt & Ida Vanessa Doederlein Schwartz. (2020) Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods. Journal of Inborn Errors of Metabolism and Screening 8.
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Neil Smith, Nicola Longo, Keith Levert, Keith Hyland & Nenad Blau. (2019) Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers. Molecular Genetics and Metabolism 126:4, pages 406-412.
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Nenad Blau. (2016) Genetics of Phenylketonuria: Then and Now. Human Mutation 37:6, pages 508-515.
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T. Opladen & N. Blau. 2014. Angeborene Stoffwechselkrankheiten bei Erwachsenen. Angeborene Stoffwechselkrankheiten bei Erwachsenen
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Caroline Heintz, Richard G.H. Cotton & Nenad Blau. (2013) Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria. Human Mutation 34:7, pages 927-936.
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Caroline Heintz, Steven F. Dobrowolski, Henriette Skovgaard Andersen, Mübeccel Demirkol, Nenad Blau & Brage Storstein Andresen. (2012) Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11. Molecular Genetics and Metabolism 106:4, pages 403-411.
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M. Zimmermann, P. Jacobs, R. Fingerhut, T. Torresani, B. Thöny, N. Blau, M.R. Baumgartner & M. Rohrbach. (2012) Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular Genetics and Metabolism 106:3, pages 264-268.
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Caroline Heintz, Heinz Troxler, Aurora Martinez, Beat Thöny & Nenad Blau. (2012) Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography–electrospray ionization tandem mass spectrometry. Molecular Genetics and Metabolism 105:4, pages 559-565.
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Nenad Blau, Julia B. Hennermann, Ulrich Langenbeck & Uta Lichter-Konecki. (2011) Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Molecular Genetics and Metabolism 104, pages S2-S9.
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Cary O. Harding & Nenad Blau. (2010) Advances and challenges in phenylketonuria. Journal of Inherited Metabolic Disease 33:6, pages 645-648.
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