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The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks by Yann Dos Santos, Friedrich Trefz, Maria Giżewska, Annemiek M.J. van Wegberg, Bruno Lefort, François Labarthe, Francjan van Spronsen, François Maillot
Published 2025-04-01Get full text
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P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria by Nicola Longo, Francjan van Spronsen, Ania Muntau, Lali Margvelashvili, Heidi Peters, Ida Vanessa Schwartz, Takashi Hamazaki, Maria Avanise Yumi Minami, Laura Guilder, Drago Bratkovic, Melissa Lah, Janet Thomas, Frank Rutsch, Ertugrul Kiykim, Roberto Zori, Mika Ishige, Kimberly Ingalls, Catalina Hughes, Lan Gao, Zhenming Zhao, Neil Smith
Published 2025-01-01Get full text
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The organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria by Sara Cannizzo, Vinciane Quoidbach, Leopoldo Trieste, Monika Benson, Antonio Federico, Alessandro Filla, Bernadette Sheehan Gilroy, Paola Giunti, Holm Graeßner, Julie Greenfield, Tobias Hagedorn, Alvaro Hermida, Barry Hunt, Anita MacDonald, Francesca Morgante, Wolfgang Oertel, Gregory Pastores, Martje G. Pauly, Carola Reinhard, Maja Relja, Eileen Treacy, Francjan Van Spronsen, Julie Vallortigara, Giuseppe Turchetti
Published 2025-06-01Get full text
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