Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder von Fu, Rong, Ceballos-Picot, Irene, Torres, Rosa J., Larovere, Laura E., Yamada, Yasukazu, Nguyen, Khue V., Hegde, Madhuri, Visser, Jasper E., Schretlen, David J., Nyhan, William L., Puig, Juan G., O’Neill, Patrick J., Jinnah, H. A.

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Attenuated variants of Lesch-Nyhan disease von Jinnah, H. A., Ceballos-Picot, Irene, Torres, Rosa J., Visser, Jasper E., Schretlen, David J., Verdu, Alfonso, Laróvere, Laura E., Chen, Chung-Jen, Cossu, Antonello, Wu, Chien-Hui, Sampat, Radhika, Chang, Shun-Jen, de Kremer, Raquel Dodelson, Nyhan, William, Harris, James C., Reich, Stephen G., Puig, Juan G.

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Delineation of the motor disorder of Lesch–Nyhan disease von Jinnah, H. A., Visser, Jasper E., Harris, James C., Verdu, Alfonso, Larovere, Laura, Ceballos-Picot, Irene, Gonzalez-Alegre, Pedro, Neychev, Vladimir, Torres, Rosa J., Dulac, Olivier, Desguerre, Isabelle, Schretlen, David J., Robey, Kenneth L., Barabas, Gabor, Bloem, Bastiaan R., Nyhan, William, De Kremer, Raquel, Eddey, Gary E., Puig, Juan G., Reich, Stephen G.

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Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report von Silvera-Ruiz, Silene M., Gemperle, Corinne, Peano, Natalia, Olivero, Valentina, Becerra, Adriana, Häberle, Johannes, Gruppi, Adriana, Larovere, Laura E., Motrich, Ruben D.

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Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants von Sampat, Radhika, Fu, Rong, Larovere, Laura E, Torres, Rosa J, Ceballos-Picot, Irene, Fischbach, Michel, de Kremer, Raquel, Schretlen, David J, Puig, Juan Garcia, Jinnah, H. A

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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings von Silvera-Ruiz, Silene M, Arranz, José A, Häberle, Johannes, Angaroni, Celia J, Bezard, Miriam, Guelbert, Norberto, Becerra, Adriana, Peralta, Fernanda, de Kremer, Raquel Dodelson, Laróvere, Laura E

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P5CDH affects the pathways contributing to Pro synthesis after ProDH activation by biotic and abiotic stress conditions von Rizzi, Yanina S, Monteoliva, Mariela I, Fabro, Georgina, Grosso, Carola L, Laróvere, Laura E, Alvarez, María E

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Lipids and DNA oxidation in Staphylococcus aureus as a consequence of oxidative stress generated by ciprofloxacin von Becerra, María Cecilia, Páez, Paulina Laura, Laróvere, Laura E, Albesa, Inés

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Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience von Laróvere, Laura E., Silvera Ruiz, Silene M., Arranz, José A., Dodelson de Kremer, Raquel

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Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience von Silvera Ruiz, Silene, Grosso, Carola L, Tablada, Margot, Cabrera, Marcelo, Dodelson de Kremer, Raquel, Juaneda, Ernesto, Laróvere, Laura E

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Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency von DODELSON DE KREMER, Raquel, LATINI, Alexandra, SUORMALA, Terttu, BAUMGARTNER, E. Regula, LAROVERE, Laura, CIVALLERO, Gabriel, GUELBERT, Norberto, PASCHINI-CAPRA, Ana, DEPETRIS-BOLDINI, Catalina, QUIROGA MAYOR, Carlos

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Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection von Laróvere, Laura E., Ruiz, Silene M. Silvera, Angaroni, Celia J., de Kremer, Raquel Dodelson

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Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients von Laróvere, Laura E., Fairbanks, Lynette D., Jinnah, H. A., Guelbert, Norberto B., Escuredo, Emilia, Becerra, Adriana, Kremer, Raquel Dodelson de

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Citrullinemia Type I, Classical Variant. Identification of A beta p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluste... von Larovere, Laura E, Angaroni, Celia J, Antonozzi, Sandra L, Bezard, Miriam B, Shimohama, Mariko, De Kremer, Raquel Dodelson

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Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report von Silvera-Ruiz, Silene M, Gemperle, Corinne, Peano, Natalia, Olivero, Valentina, Becerra, Adriana, Häberle, Johannes, Gruppi, Adriana, Laróvere, Laura E, Motrich, Ruben D

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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings von Silvera-Ruiz, Silene M, Arranz, José A, Häberle, Johannes, Angaroni, Celia J, Bezard, Miriam, Guelbert, Norberto, Becerra, Adriana, Peralta, Fernanda, de Kremer, Raquel Dodelson, Laróvere, Laura E

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A Glutathione Derivative with Chelating and in vitro Neuroprotective Activities: Synthesis, Physicochemical Properties, and Biological Evaluation von Cacciatore, Ivana, Cornacchia, Catia, Fornasari, Erika, Baldassarre, Leonardo, Pinnen, Francesco, Sozio, Piera, Di Stefano, Antonio, Marinelli, Lisa, Dean, Annalisa, Fulle, Stefania, Di Filippo, Ester Sara, La Rovere, Rita Maria Laura, Patruno, Antonia, Ferrone, Alessio, Di Marco, Valerio

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(R)-α-Lipoyl-Glycyl-L-Prolyl-L-Glutamyl Dimethyl Ester Codrug as a Multifunctional Agent with Potential Neuroprotective Activities von Cacciatore, Ivana, Baldassarre, Leonardo, Fornasari, Erika, Cornacchia, Catia, Di Stefano, Antonio, Sozio, Piera, Cerasa, Laura Serafina, Fontana, Antonella, Fulle, Stefania, Di Filippo, Ester Sara, La Rovere, Rita Maria Laura, Pinnen, Francesco

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(R)-[alpha]-Lipoyl-Glycyl-L-Prolyl-L-Glutamyl Dimethyl Ester Codrug as a Multifunctional Agent with Potential Neuroprotective Activities von Cacciatore, Ivana, Baldassarre, Leonardo, nasari, Erika, Cornacchia, Catia, DiStefano, Antonio, Sozio, Piera, Cerasa, Laura Serafina, Fontana, Antonella, Fulle, Stefania, DiFilippo, Ester Sara, LaRovere, Rita Maria Laura, Pinnen, Francesco

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Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report von Silvera-Ruiz, Silene M, Gemperle, Corinne, Peano, Natalia, Olivero, Valentina, Becerra, Adriana, Häberle, Johannes, Gruppi, Adriana, Larovere, Laura E, Motrich, Ruben D

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