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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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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases by Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan Stait, Simone Tregoning, Leah E. Frajman, Adam M. Bournazos, David R. L. Robinson, Megan Ball, Boris Reljic, Bryony Ryder, Mathew J. Wallis, Anand Vasudevan, Cara Beck, Heidi Peters, Joy Lee, Natalie B. Tan, Mary-Louise Freckmann, MitoMDT Diagnostic Network for Genomics and Omics, Vasiliki Karlaftis, Chantal Attard, Paul Monagle, Amanda Samarasinghe, Rosie Brown, Weimin Bi, Monkol Lek, Robert McFarland, Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper, Zornitza Stark, John Christodoulou, Alison G. Compton, David R. Thorburn, David A. Stroud
Published 2025-05-01Get full text
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