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au:Guelbert, Norberto
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1. Manejo inicial de la hiperamonemia aguda en pediatría
Eiroa, Hernán ORCID ; Durand, Consuelo ORCID ; Szlago, Marina ORCID ; Pereyra, Marcela ORCID ; Nuñez, Mariana ORCID ; Guelbert, Norberto ORCID ; Pacheco, Gabriela ORCID ; Kleppe, Soledad ORCID .
Archivos argentinos de pediatría jun 2023, Volume 121 N. 3 Pages 11 - 11
https://doi.org/10.5546/aap.2022-0261
2. Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina
Guelbert, Guillermo ORCID ; Guelbert, Norberto ORCID .
Journal of Inborn Errors of Metabolism and Screening 2022, Volume 10 elocation e20220001
https://doi.org/10.1590/2326-4594-jiems-2022-0001
3. Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
Laróvere, Laura E. ORCID ; Fairbanks, Lynette D. ORCID ; Jinnah, H. A. ORCID ; Guelbert, Norberto B. ORCID ; Escuredo, Emilia ORCID ; Becerra, Adriana ORCID ; Kremer, Raquel Dodelson de ORCID .
Journal of Inborn Errors of Metabolism and Screening 2021, Volume 9 elocation e20200027
https://doi.org/10.1590/2326-4594-jiems-2020-0027 402 downloads
4. “Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era
Pesaola, Favio ORCID ; Guelbert, Guillermo ORCID ; Venier, Ana Clara ORCID ; Cismondi, Inés Adriana ORCID ; Becerra, Adriana ORCID ; Vazquez, Juan Carlos G. ORCID ; Fernandez, Elmer ORCID ; De Paul, Ana Lucia ORCID ; Guelbert, Norberto ORCID ; Noher, Inés ORCID .
Journal of Inborn Errors of Metabolism and Screening 2021, Volume 9 elocation e20210009
https://doi.org/10.1590/2326-4594-jiems-2021-0009 264 downloads
5. Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America
Guelbert, Norberto ORCID ; Atanacio, Nora ORCID ; Denzler, Inés ORCID ; Embiruçu, Emília Katiane ORCID ; Mancilla, Nury ORCID ; Naranjo, Ricardo ORCID ; Pessoa, André ORCID ; Spécola, Norma ORCID ; Tavera, Lina ORCID ; Troncoso, Mónica ORCID ; Vergara, Diane ORCID .
Journal of Inborn Errors of Metabolism and Screening 2020, Volume 8 elocation e20200012
https://doi.org/10.1590/2326-4594-jiems-2020-0012 877 downloads
6. Enfermedad de Morquio (mucopolisacaridosis IV-A): aspectos clínicos, diagnósticos y nuevo tratamiento con terapia de reemplazo enzimático
Politei, Juan ORCID ; . Schenone, Andrea B ORCID ; Guelbert, Norberto ORCID ; Fainboim, Alejandro ORCID ; Szlago, Marina ORCID .
Archivos argentinos de pediatría aug 2015, Volume 113 N. 4 Pages 359 - 364
https://doi.org/10.5546/aap.2015.359 3356 downloads
7. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
Giugliani, Roberto ORCID ; Villarreal, Martha Luz Solano ORCID ; Valdez, C. Araceli Arellano ORCID ; Hawilou, Antonieta Mahfoud ORCID ; Guelbert, Norberto ORCID ; Garzón, Luz Norela Correa ORCID ; Martins, Ana Maria ORCID ; Acosta, Angelina ORCID ; Cabello, Juan Francisco ORCID ; Lemes, Aída ORCID ; Santos, Mara Lucia Schmitz Ferreira ORCID ; Amartino, Hernán ORCID .
Genetics and Molecular Biology jun 2014, Volume 37 N. 2 Pages 315 - 329
11326 downloads
8. Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry
Neumann, Pablo ORCID ; Antongiovanni, Norberto ORCID ; Fainboim, Alejandro ORCID ; Kisinovsky, Isaac ORCID ; Amartino, Hernán ORCID ; Cabrera, Gustavo ORCID ; Carmona, Sergio ORCID ; Ceci, Romina ORCID ; Cicerán, Alberto ORCID ; Choua, Martín ORCID ; Doxastakis, Griselda ORCID ; De Maio, Sonia ORCID ; Ebner, Roberto ORCID ; Escobar, Ana María ORCID ; Ferrari, Gustavo ORCID ; Forrester, Mariano ORCID ; Guelbert, Norberto ORCID ; Luna, Paula ORCID ; Marchesoni, Cinthia ORCID ; Masllorens, Francisca ORCID ; Politei, Juan ORCID ; Reisin, Ricardo ORCID ; Ripeau, Diego ORCID ; Rozenfeld, Paula ORCID ; Serebrinsky, Graciela ORCID ; Tarabuso, Ana Lía ORCID ; Trípoli, Juan ORCID .
Medicina (Buenos Aires) oct 2013, Volume 73 N. 5 Pages 482 - 494
9893 downloads Cited 2 times in SciELO
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