Search Results - Laura Guilder
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Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series by Silvia Radenkovic, Christin Johnsen, Andreas Schulze, Gurnoor Lail, Laura Guilder, Kaitlin Schwartz, Matthew Schultz, Saadet Mercimek-Andrews, Suzanne Boyer, Eva Morava
Published in Therapeutic Advances in Rare Disease (2023-01-01)Get full text
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Hyperleucinosis during infections in maple syrup urine disease post liver transplantation by Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews
Published in Molecular Genetics and Metabolism Reports (2021-06-01)Get 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 in Genetics in Medicine Open (2025-01-01)Get full text
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