المؤلفون: Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, 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, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101060- (2024)

مصطلحات موضوعية: Batten disease, Enzyme replacement therapy, Epilepsy, Language delay, Ataxia, Cerliponase alfa, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000132Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/d1f6513168dd43cd873e78c97646f8bfTest

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.920421/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/10be526a07204d988321d4c2cf54b85fTest

المؤلفون: Guillermo Guelbert, Norberto Guelbert

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, CLN, cerliponase alfa, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100304&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/46ef2ff693e44ea6a21f41fb5fe4094dTest

المؤلفون: Favio Pesaola, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Neuronal CeroidLipofuscinosis, Genomics, CLN1, CLN2, CLN8, Atypical Phenotypes, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100308&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/98139ce7c9a94aa784ae9d56f4a1dc8cTest

المؤلفون: Norberto Guelbert, Oscar M Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora G Atanacio, Natacha S Bazan, Ellaine D.F Carvalho, María D. F Carvalho de Andrade, Inés M Denzler, Consuelo Durand, Erlane M Ribeiro, Juan C Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma J Hernández Rodriguez, Emilia K Embiruçu, Marcelo A Kauffman, Nury I Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina F Fischinger Moura de Souza, Victor A Muñoz, Ricardo A Naranjo Florez, André L Pessoa, Maria V Ruiz, Martha M Solano Villareal, Norma Spécola, Lina M Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Urgrina, María M Vaccarezza, Diane Vergara, María M Villanueva

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::51af08e74ac01947826084e752e49bf4Test
https://doi.org/10.21203/rs.3.rs-2159184/v1Test

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype

العلاقة: https://figshare.com/articles/figure/Image_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_TIF/20478969Test

الإتاحة: https://doi.org/10.3389/fneur.2022.920421.s002Test
https://figshare.com/articles/figure/Image_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_TIF/20478969Test

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype

العلاقة: https://figshare.com/articles/dataset/Table_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_XLSX/20478990Test

الإتاحة: https://doi.org/10.3389/fneur.2022.920421.s006Test
https://figshare.com/articles/dataset/Table_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_XLSX/20478990Test

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype

العلاقة: https://figshare.com/articles/dataset/Data_Sheet_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_PDF/20478966Test

الإتاحة: https://doi.org/10.3389/fneur.2022.920421.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_PDF/20478966Test

المؤلفون: Guillermo Guelbert, Adriana Becerra, Favio Pesaola, Ana Clara Venier, Ana Lucía De Paul, Inés Adriana Cismondi, Ines Noher, Juan Carlos G. Vazquez, Norberto Guelbert, Elmer Andrés Fernández

المصدر: Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210009, Published: 05 MAY 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Genetics, Atypical Phenotypes, Medicine (General), KCTD7, CLN1, Endocrinology, Diabetes and Metabolism, CLN2, PPT1, Neuronal Ceroid Lipofuscinosis, Genomics, Biology, medicine.disease, Phenotype, CLN8, R5-920, Neuronal CeroidLipofuscinosis, Pediatrics, Perinatology and Child Health, Genotype, medicine, Neuronal ceroid lipofuscinosis, Gene, Genetics (clinical), Exome sequencing

وصف الملف: text/html; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45888f3d773e07c06b990cb4c0df23aTest
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100308Test

المؤلفون: Victor Munoz, Guillermo Guelbert, Francisco Pueyrredon, Guillermo Seratti, Roberto Caraballo, Norberto Guelbert, Raul Jalil, Tatiana Rodrigo, Daniel Velazquez

المصدر: Molecular Genetics and Metabolism. 123:S128

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Disease, Enzyme replacement therapy, Cerliponase alfa, Biochemistry, Neuronal Ceroid Lipofuscinosis Type 2, Endocrinology, Public hospital, Genetics, Medicine, business, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1efc7cefb0cb611f6174c8bfcdd184beTest
https://doi.org/10.1016/j.ymgme.2017.12.349Test