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Genetic Testing and Molecular Biomarkers|January 22, 2025
REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and <i>In Silico</i> Structural Modeling of One Index CaseEugen-Matthias Strehle, Roberta Battini, Vasantha Gowda, et al.Journal of Neurology|April 28, 2023
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysisEugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, et al.Pageof 2