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Use of sapropterin in Mexican patients with yperphenylalaninemia by Susana Monroy-Santoyo, Leticia Belmont-Martínez, Cynthia Fernández-Lainez
Published 2014-07-01
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Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon by Roberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Mario Ernesto Cruz-Muñoz, Héctor Manuel Mora-Montes, Eva Morava, Eva Morava, Eva Morava, Taroh Kinoshita, Susana Monroy-Santoyo, Iván Martínez-Duncker, Iván Martínez-Duncker
Published 2022-10-01
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