Search Results

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: a PAH landscape by Himmelreich, Nastassja (Author) , Ramón-Maiques, Santiago (Author) , Navarrete, Rosa (Author) , Castejon-Fernandez, Natalia (Author) , Garbade, Sven (Author) , Martinez, Aurora (Author) , Desviat, Lourdes R. (Author) , Pérez, Belén (Author) , Blau, Nenad (Author) ,

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Does hyperphenylalaninemia induce brain glucose hypometabolism?: Cerebral spinal fluid findings in treated adult phenylketonuric patients by Trefz, Friedrich K. (Author) , Frauendienst-Egger, Georg (Author) , Dienel, Gerald (Author) , Cannet, Claire (Author) , Schmidt-Mader, Brigitte (Author) , Haas, Dorothea (Author) , Blau, Nenad (Author) , Himmelreich, Nastassja (Author) , Spraul, Manfred (Author) , Freisinger, Peter (Author) , Dobrowolski, Steven (Author) , Berg, Daniela (Author) , Pilotto, Andrea (Author) ,

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Patient’s thoughts and expectations about centres of expertise for PKU by Wegberg, Anna van (Author) , MacDonald, A. (Author) , Abeln, D. (Author) , Hagedorn, T. S. (Author) , Lange, E. (Author) , Trefz, Friedrich K. (Author) , van Vliet, D. (Author) , van Spronsen, F. J. (Author) ,

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Defining tetrahydrobiopterin responsiveness in phenylketonuria: survey results from 38 countries by Evers, Roeland A. F. (Author) , van Wegberg, A. M. J. (Author) , Ahring, K. (Author) , Beblo, S. (Author) , Bélanger-Quintana, A. (Author) , Bosch, A. M. (Author) , Burlina, A. (Author) , Campistol, J. (Author) , Coskun, T. (Author) , Feillet, F. (Author) , Giżewska, M. (Author) , Huijbregts, S. C. J. (Author) , Kearney, S. (Author) , Langeveld, M. (Author) , Leuzzi, V. (Author) , Maillot, F. (Author) , Muntau, A. C. (Author) , Rocha, J. C. (Author) , Romani, C. (Author) , Trefz, Friedrich K. (Author) , MacDonald, A. (Author) , van Spronsen, F. J. (Author) ,

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Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label... by Muntau, Ania (Author) , Burlina, Alberto (Author) , Eyskens, François (Author) , Freisinger, Peter (Author) , Leuzzi, Vincenzo (Author) , Sivri, Hatice Serap (Author) , Gramer, Gwendolyn (Author) , Pazdírková, Renata (Author) , Cleary, Maureen (Author) , Lotz-Havla, Amelia S. (Author) , Lane, Paul (Author) , Alvarez, Ignacio (Author) , Rutsch, Frank (Author) ,

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PKU dietary handbook to accompany PKU guidelines by MacDonald, Anita (Author) , Wegberg, Anna van (Author) , Ahring, K. (Author) , Beblo, S. (Author) , Belanger-Quintana, A. (Author) , Burlina, Angelo (Author) , Campistol, Josep M. (Author) , Mehdorn, Türkan (Author) , Feillet, F. (Author) , Giżewska, Maria (Author) , Huijbregts, S. C. (Author) , Leuzzi, Vincenzo (Author) , Maillot, F. (Author) , Muntau, Ania (Author) , Rocha, J. C. (Author) , Romani, C. (Author) , Trefz, Friedrich K. (Author) , Spronsen, F. J. van (Author) ,

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6-Pyruvoyltetrahydropterin synthase deficiency: review and report of 28 Arab subjects by Almannai, Mohammed (Author) , Blau, Nenad (Author) ,

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Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter meta... by Smith, Neil (Author) , Longo, Nicola (Author) , Levert, Keith (Author) , Hyland, Keith (Author) , Blau, Nenad (Author) ,

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In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU by Trunzo, Roberta (Author) , Shen, Nan (Author) , Jung-Klawitter, Sabine (Author) , Blau, Nenad (Author) ,

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Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation by Shen, Nan (Author) , Heintz, Caroline (Author) , Thiel, Christian (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) ,

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Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria by Gramer, Gwendolyn (Author) , Haege, Gisela (Author) , Langhans, Claus-Dieter (Author) , Schuhmann, Vera (Author) , Burgard, Peter (Author) , Hoffmann, Georg F. (Author) ,

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Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling by Trefz, Friedrich K. (Author) , Blau, Nenad (Author) ,

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Alternative therapies to address the unmet medical needs of patients with phenylketonuria by Blau, Nenad (Author) , Longo, Nicola (Author) ,

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The Kuvan® adult maternal paediatric European registry (KAMPER) multinational observational study: baseline and 1-Year data in phenylketonuria patients responsive to sapropterin by Trefz, Friedrich K. (Author) , Muntau, Ania (Author) , Lagler, Florian Bartholomäus (Author) , Moreau, Flavie (Author) , Alm, Jan (Author) , Burlina, Alberto (Author) , Rutsch, Frank (Author) , Bélanger-Quintana, Amaya (Author) , Feillet, François (Author) ,

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Visual functions in phenylketonuria: evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses by Gramer, Gwendolyn (Author) , Förl, Birgit (Author) , Springer, Christina (Author) , Weimer, Petra (Author) , Haege, Gisela (Author) , Mackensen, Friederike (Author) , Müller, Edith (Author) , Völcker, Hans Eberhard (Author) , Hoffmann, Georg F. (Author) , Lindner, Martin (Author) , Krastel, Hermann (Author) , Burgard, Peter (Author) ,

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Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes by Cleary, Maureen (Author) , Trefz, Friedrich (Author) , Muntau, Ania C. (Author) , Feillet, François (Author) , van Spronsen, Francjan J. (Author) , Burlina, Alberto (Author) , Bélanger-Quintana, Amaya (Author) , Giżewska, Maria (Author) , Gasteyger, Christoph (Author) , Bettiol, Esther (Author) , Blau, Nenad (Author) , MacDonald, Anita (Author) ,

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Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11 by Heintz, Caroline (Author) , Blau, Nenad (Author) ,

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Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry by Heintz, Caroline (Author) , Blau, Nenad (Author) ,

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Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases by Cazzorla, Chiara (Author) , Burgard, Peter (Author) ,

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Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. In memoriam Horst Bickel. by Schulze, Andreas (Author) , Mayatepek, Ertan (Author) , Hoffmann, Georg F. (Author) ,

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