Gabriel Gonzalez - Hosp Ninos Santisima Trin

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论文共 32 篇作者统计合作学者相似作者

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Two Compound Heterozygous Variants in the CLN8 Gene Are Responsible for Neuronal Cereidolipofuscinoses Disorder in a Child: a Case Report

Federico Baltar,Camila Simoes, Francisco Garagorry,Martin Grana,Soledad Rodriguez,Maria Haydee Aunchayna,Alejandra Tapie,Alfredo Cerisola,Gabriel Gonzalez,Hugo Naya,Lucia Spangenberg,Victor Raggio

FRONTIERS IN PEDIATRICS (2024)

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Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa

Norberto Guelbert,Oscar Mauricio Espitia Segura,Carolina Amoretti, Arteaga,Nora Graciela Atanacio, Sabrina Bazan Natacha,Ellaine Doris Fernandes Carvalho,Maria Denise Fernandes Carvalho de Andrade,Ines Maria Denzler,Consuelo Durand, Erlane Ribeiro,Juan Carlos Giugni,Gabriel Gonzalez,Dolores Gonzalez Moron,Guillermo Guelbert, Zulma Janneth Hernandez Rodriguez,Katiane Embirucu Emilia,Marcelo Andres Kauffman,Nury Isabel Mancilla, Laureano Marcon,Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrian Munoz,Ricardo Andres Naranjo Florez,Andre Luiz Pessoa, Maria Victoria Ruiz, Martha Luz Solano Villareal,Norma Specola,Lina Marcela Tavera,Javiera Tello, Monica Troncoso Schifferli, Sonia Ugrina,Maria Magdalena Vaccarezza,Diane Vergara, Maria Mercedes Villanueva

MOLECULAR GENETICS AND METABOLISM REPORTS (2024)

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Corrigendum to “classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.” [molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]

Norberto Guelbert,Oscar Mauricio Espitia Segura,Carolina Amoretti, Arteaga, Nora Graciela Atanacio, Natacha Sabrina Bazan,Ellaine Doris Fernandes Carvalho,Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler,Consuelo Durand, Erlane Ribeiro,Juan Carlos Giugni,Gabriel González,Dolores González Moron,Guillermo Guelbert, Zulma Janneth Hernández Rodriguez,Katiane Embiruçu Emilia,Marcelo Andrés Kauffman,Nury Isabel Mancilla, Laureano Marcon

Molecular Genetics and Metabolism Reports（2024）

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Thiamine-Responsive Pyruvate Dehydrogenase Complex Deficiency in a Patient with Recurrent Muscle Weakness and a Point Mutation C.C262t (p.r88c) in Pdha1 Affecting Protein Levels and Mitochondrial Bioenergetics

Alfredo Cerisola,Víctor Raggio, Mariana Chaves,Martina Alonso,Santiago Mansilla,Cristina Zabala, Graciela Barros,Hugo Naya,Gabriel González,Laura Castro, Martín Graña,Lucía Spangenberg, Celia Quijano

crossref（2024）

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[Venous and Cerebral Sinus Thrombosis in Newborns and Children]

Ricardo Mora,Luis Ibarra, Valentina Olivera,Melania Rosas,Lucia Cibils,Federico Baltar,Victoria Ruiz,Emilio Turcatti,Gonzalo Costa,Santiago Mansilla,Alfredo Cerisola,Gabriel Gonzalez

PubMed (2023): 95-101

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Whole Genome Sequencing Reveals a Frameshift Mutation and a Large Deletion in YY1AP1 in a Girl with a Panvascular Artery Disease

Raggio Víctor,Dell’Oca Nicolas,Simoes Camila,Tapié Alejandra,Medici Conrado,Costa Gonzalo,Rodriguez Soledad,Greif Gonzalo, Garrone Estefania, Rovella María Laura, Gonzalez Virgina,Halty Margarita,González Gabriel,Shin Jong-Yeon,Shin Sang-Yoon,Kim Changhoon, Seoul National University Bundang Hospital,Graña Martin, Universidad de la República, Universidad Católica del Uruguay

Human genomics（2021）

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[Neuromyelitis Optica]

Ceila Ferrán,Virginia Pedemonte,Emilio Turcatti,Gabriel González

PubMed (2019): 60-65

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Asociación De Melanocitosis Dérmica Con Enfermedades Lisosomales

Lucía Cibils,Conrado Medici, C. Chamorro,Karina Malán,Aida Lemes,Alfredo Cerisola,Gabriel González

Archivos de Pediatría del Uruguayno. 4 (2016): 342-346

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Association of Dermal Melanocytosis with Lysosomal Storage Diseases

Lucía Cibils,Conrado Medici, C. Chamorro,Karina Malán,Aida Lemes,Alfredo Cerisola,Gabriel González

Archivos de Pediatría del Uruguay/Archivos de pediatría del Uruguayno. 4 (2016): 342-346

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Neuropatía Oftalmoplejica Dolorosa Recurrente (migraña Oftalmoplejica): Caso Clínico

Federico Baltar Yanes,Conrado Medici,Emilio Turcatti,Gabriel González

Revista uruguaya de medicina internano. 2 (2016): 65-69

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