Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder by 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.

Get full text

Attenuated variants of Lesch-Nyhan disease by 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.

Get full text

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

Get full text

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings by 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

Get full text

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

Get full text

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

Get full text

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants by 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

Get full text

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

Get full text

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

Get full text

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

Get full text

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... by Larovere, Laura E, Angaroni, Celia J, Antonozzi, Sandra L, Bezard, Miriam B, Shimohama, Mariko, De Kremer, Raquel Dodelson

Get full text

Genetic polymorphism of thiopurine S-methyltransferase in Argentina by LAROVERE, L. E, DE KREMER, R. Dodelson, LAMBOOY, L. H. J, DE ABREU, R. A

Get full text

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

Get full text

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

Get full text

Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia by Silvera-Ruiz, Silene M., Grosso, Carola L., Kremer, Raquel Dodelson De, Laróvere, Laura E.

Get full text

Impact of Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia by Silene M. Silvera-Ruiz BSc, Carola L. Grosso PhD, Raquel Dodelson De Kremer MD, PhD, Laura E. Laróvere PhD

Get full text

Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster by Laróvere, Laura E, Angaroni, Celia J, Antonozzi, Sandra L, Bezard, Miriam B, Shimohama, Mariko, de Kremer, Raquel Dodelson

Get full text

Delineation of the motor disorder of Lesch–Nyhan disease by 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.

Get full text

Prevalence and Clinical Outcomes of Poor Immune Response Despite Virologically Suppressive Antiretroviral Therapy Among Children and Adolescents With Human Immunodeficiency Virus i... by Chappell, Elizabeth, Riordan, Andrew, Jourdain, Gonzague, Soriano-Arandes, Antoni, Ene, Luminita, Scherpbier, Henriette J, Warszawski, Josiane, Collins, Intira J, Smit, Colette, Marques, Laura, Klein, Nigel, Guillén, Sara, Judd, Ali, Thorne, Claire, Goodall, Ruth, Königs, Christoph, Spoulou, Vana, Prata, Filipa, Goetghebuer, Tessa, Chiappini, Elena, Galli, Luisa, Naver, Lars, Giaquinto, Carlo, Gibb, Diana M, M Gibb, Diana, Marczynska, Magdalena, Okhonskaia, Liubov, Klimkait, Thomas, Lallemant, Marc, Ngo-Giang-Huong, Nicole, Kiseleva, Galyna, Malyuta, Ruslan, Volokha, Alla, Hainaut, Marc, Delforge, Marc, Le Chenadec, Jerome, Ramos, Elisa, Dialla, Olivia, Wack, Thierry, Laurent, Corine, Ait si Selmi, Lamya, Leymarie, Isabelle, Ait Benali, Fazia, Brossard, Maud, Boufassa, Leila, Floch-Tudal, Corinne, Firtion, Ghislaine, Hau, Isabelle, Chace, Anne, Bolot, Pascal, Blanche, Stéphane, Levine, Martine, Bicëtre, Le Kremlin, Fourcade, Corinne, Heller-Roussin, Brigitte, Runel-Belliard, Camille, Tricoire, Joëlle, Chirouze, Catherine, Reliquet, Véronique, Brouard, Jacques, Kebaili, Kamila, Fialaire, Pascale, Lalande, Muriel, Schultze-Strasser, Stephan, Baumann, U, Niehues, T, Neubert, J, Kobbe, R, Berlin, Charite, Feiterna-Sperling, C, Königs, C, Buchholz, B, Notheis, G, de Martino, Maurizio, Angelo Tovo, Pier, Patrizia, Osimani, Larovere, Domenico, Ruggeri, Maurizio, Faldella, Giacomo, Baldi, Francesco, Badolato, Raffaele, Montagnani, Carlotta, Venturini, Elisabetta, Lisi, Catiuscia, Di Biagio, Antonio, Taramasso, Lucia, Giacomet, Vania, Erba, Paola, Esposito, Susanna, Lipreri, Rita, Salvini, Filippo, Tagliabue, Claudia, Cellini, Monica, Bruzzese, Eugenia, Lo Vecchio, Andrea, Rampon, Osvalda, Donà, Daniele, Romano, Amelia, Dodi, Icilio, Maccabruni, Anna

Get full text

Missed opportunities to prevent mother‐to‐child transmission of HIV in Italy by Di Biagio, A, Taramasso, L, Gustinetti, G, Burastero, G, Giacomet, V, La Rovere, D, Genovese, O, Giaquinto, C, Rampon, O, Carloni, I, Hyppolite, TK, Palandri, L, Bernardi, S, Bruzzese, E, Badolato, R, Gabiano, C, Chiappini, E, De Martino, M, Galli, L, Osimani, Patrizia, Larovere, Domenico, Ruggeri, Maurizio, Pession, Andrea, Faldella, Giacomo, Capra, Francesca, Pulcini, Sara, Zattoni, Valentina, Dotta, Laura, Aliffi, Antonia, Anastasio, Elisa, Fiumana, Elisa, Gervaso, Paola, Montagnani, Carlotta, Viscoli, Claudio, Erba, Paola, Zuccotti, GianVincenzo, Benincaso, Annarita, Salvini, Filippo, Lipreri, Rita, Esposito, Susanna, Plebani, Anna, Tagliabue, Claudia, Giubbarelli, Francesca, Nicastro, Emanuele, Lo Vecchio, Andrea, Buffolano, Wilma, Agnese, Maura, Romano, Amelia, Marcello, Saitta, Giaquinto, Carlo, Pennazzato, Martina, Consolini, Rita, Dodi, Icilio, Zanaboni, Domenico, Palma, Paolo, Pontrelli, Giuseppe, Tchidjou, Hyppolite, Mazza, Antonio, Tovo, Pier Angelo, Silvestro, Erika, Virano, Silvia, Portelli, Vincenzo, Pellegatta, Antonio

Get full text