Understanding pyrroline-5-carboxylate synthetase deficiency: Clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

Diego Martinelli, Johannes Häberle, Vicente Rubio, Cecilia Giunta, Ingrid Hausser, Rosalba Carrozzo, Nadine Gougeard, Clara Marco-Marín, Bianca M. Goffredo, Maria Chiara Meschini, Elsa Bevivino, Sara Boenzi, Giovanna Stefania Colafati, Francesco Brancati, Matthias R. Baumgartner, Carlo Dionisi-Vici

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