المؤلفون: Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia, Chabrol, Brigitte, Grant, Christina, Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt Ii, J, Giugliani, Roberto, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond

المصدر: Orphanet Journal of Rare Diseases. 19(1)

مصطلحات موضوعية: Lysosomal storage disease, MPS VII, Mucopolysaccharidosis VII, Non-immune hydrops fetalis, β-glucuronidase deficiency, Humans, Mucopolysaccharidosis VII, Glucuronidase, Male, Child, Preschool, Female, Child, Enzyme Replacement Therapy, Recombinant Proteins, Infant, Longitudinal Studies, Adolescent

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8np717v2

المؤلفون: Politei, Juan M., Durand, Consuelo, Schenone, Andrea B.

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2016 4

مصطلحات موضوعية: Fabry disease, small fiber neuropathy

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100325

المؤلفون: Guelbert, Norberto, Espitia Segura, Oscar Mauricio, Amoretti, Carolina, Arteaga Arteaga, Angélica, Atanacio, Nora Graciela, Bazan Natacha, Sabrina, Carvalho, Ellaine Doris Fernandes, Carvalho de Andrade, Maria Denise Fernandes, Denzler, Inés María, Durand, Consuelo, Ribeiro, Erlane, Giugni, Juan Carlos, González, Gabriel, González Moron, Dolores, Guelbert, Guillermo, Hernández Rodriguez, Zulma Janneth, Embiruçu Emilia, Katiane, Kauffman, Marcelo Andrés, Mancilla, Nury Isabel, Marcon, Laureano, Marques Pereira, Alessandra, Fischinger Moura de Souza, Carolina, Muñoz, Victor Adrián, Naranjo Flórez, Ricardo Andrés, Pessoa, André Luiz, Ruiz, María Victoria, Solano Villareal, Martha Luz, Spécola, Norma, Tavera, Lina Marcela, Tello, Javiera, Troncoso Schifferli, Mónica, Ugrina, Sonia, Vaccarezza, María Magdalena, Vergara, Diane, Villanueva, María Mercedes

المصدر: In Molecular Genetics and Metabolism Reports March 2024 38

المؤلفون: Giugliani, Roberto^{Aff1, IDs1302302403176z_cor1}, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond, Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia B., Chabrol, Brigitte, Grant, Christina L., Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt II, J. Lawrence

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Malkus, Betsy C., Cohen, Jeanne M., Grant, Christina L., Scarpa, Maurizio, Sun, Angela, Wang, Raymond Y., Burton, Barbara K., Oussoren, Esmeralda, Martins, Esmeralda E., Durand, Consuelo, Chabrol, Brigitte, Ortiz, Lionel, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence, II, Giugliani, Roberto, Gonzalez-Meneses, Antonio

المصدر: In Molecular Genetics and Metabolism February 2024 141(2)

المؤلفون: Giugliani, Roberto, Grant, Christina L., Scarpa, Maurizio, Sun, Angela, Wang, Raymond Y., Burton, Barbara K., Oussoren, Esmeralda, Durand, Consuelo, Martins, Esmeralda E., Chabrol, Brigitte, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence, II, Gonzalez-Meneses, Antonio

المصدر: In Molecular Genetics and Metabolism February 2024 141(2)

المؤلفون: Durand, Consuelo

المصدر: In Molecular Genetics and Metabolism February 2024 141(2)

المؤلفون: Politei, Juan^Aff1, Alberton, Valeria, Amoreo, Oscar, Antongiovanni, Norberto, Arán, Maria Nieves, Barán, Marcelo, Cabrera, Gustavo, Di Pietrantonio, Silvia, Durand, Consuelo, Fainboim, Alejandro, Frabasil, Joaquin, Pizarro, Fernando Gomez, Iotti, Roberto, Liern, Miguel, Perretta, Fernando, Ripeau, Diego, Toniolo, Fernanda, Trimarchi, Hernan, Rivas, Dana Velasques, Wallace, Eric, Schenone, Andrea Beatriz

المصدر: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association . 33(11):2095-2101

المؤلفون: Giugliani, Roberto, Gonzalez-Meneses, Antonio, Grant, Christina, Scarpa, Maurizio, Sun, Angela, Wang, Raymond, Burton, Barbara, van der Ploeg, Ans, Martins, Esmeralda, Durand, Consuelo, Chabrol, Brigitte, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence, II

المصدر: In Genetics in Medicine Open 2024 2 Supplement 1

Alternate Title: Argentinean Consensus on the Diagnosis and Treatment of Niemann-Pick Disease type C. (English)

المؤلفون: AMARTINO, HERNÁN, AZCONA, CAROLINA, CALANDRA, CRISTIAN, DURAND, CONSUELO, FORTINI, SEBASTIÁN, KAUFFMAN, MARCELO, LOOS, MARIANA, MAXIT, CLARISA, MENAZZI, SEBASTIÁN, SPÉCOLA, NORMA, SZLAGO, MARINA

المصدر: Medicina (Buenos Aires); jul/ago2023, Vol. 83 Issue 4, p588-602, 15p