Martinelli D, Hberle J, Rubio V, Giunta C, Hausser I, Carrozzo R, Gougeard N, Marco-Marin C, Goffredo BM, Meschini MC, et al: Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
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