المؤلفون: Guelbert, Norberto, Atanacio, Nora, Denzler, Inés, Embiruçu, Emília Katiane, Mancilla, Nury, Naranjo, Ricardo, Pessoa, André, Spécola, Norma, Tavera, Lina, Troncoso, Mónica, Vergara, Diane

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2020 8

مصطلحات موضوعية: CLN2 disease, neuronal ceroid lipofuscinosis type 2, follow-up, lipofuscin storage diseases, neuronal ceroid lipofuscinosis.

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100307

المؤلفون: Spécola, Norma, Chiesa, Ana

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2017 5

مصطلحات موضوعية: phenylketonuria, new treatment, adherence, glycomacropeptide, BH4, PAL

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100301

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: Chiesa, Ana, Spécola, Norma, Poubel, Monique, Vela-Amieva, Marcela, Jurecki, Elaina, Vilela, Daniel RF, Mesojedovas, Débora, Carneiro, Giovanna Cavalcanti, Eiroa, Hernán, Nakamura, Keila Hayashi, de Almeida, Marcela Lopes, Cunha, Roberta Brandão, Amorim, Tatiana, Schwartz, Ida Vanessa Doederlein

المصدر: In Molecular Genetics and Metabolism Reports March 2024 38

المؤلفون: Asteggiano, Carla Gabriela^Aff1, Papazoglu, Magali, Bistué Millón, María Beatriz, Peralta, María Fernanda, Azar, Nydia Beatriz, Spécola, Norma Spécola, Guelbert, Norberto, Suldrup, Niels Suldrup, Pereyra, Marcela, Dodelson de Kremer, Raquel

المصدر: Pediatric Research: Official publication of the American Pediatric Society, the European Society for Paediatric Research and the Society for Pediatric Research. 84(6):837-841

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

Alternate Title: CONSENSUS STATEMENT ON THE TRANSITION FROM PEDIATRIC CARE TO ADULT CARE IN PATIENTS WITH INBORN ERRORS OF METABOLISM IN ARGENTINA. (English)

المؤلفون: Chiesa, Ana, Eiroa, Hernán, Lavorgna, Silvana, Presner, Natalia, Rivera, Santiago, Spécola, Norma, Vázquez, Natalia

المصدر: Actualización en Nutrición; jul-sep2023, Vol. 24 Issue 3, p186-193, 14p

مصطلحات موضوعية: INBORN errors of metabolism diagnosis, NEWBORN screening, CONSENSUS (Social sciences), TRANSITIONAL care, PEDIATRICS, CONTINUUM of care, METABOLIC disorders, DELPHI method, ELDER care

مصطلحات جغرافية: ARGENTINA

المؤلفون: Brandão de Paiva, Anderson Rodrigues, Santos Pessoa, André Luiz, Ribeiro Nóbrega, Paulo, Martins Moreno, Cristiane Araujo, Lynch, David S., Taniguti, Lucas Mitsuo, Paulo Kitajima, João, Freua, Fernando, Della-Ripa, Bruno, Cunha, Paulina, Peixoto de Barcelos, Isabella, Inês Macedo-Souza, Lúcia, Augusto Takeuchi, Carlos, Silva Garcia, Antônio Milton, Nardes, Flávia, Fontão, Ramiro, Antônio Antoniuk, Sérgio, Troncoso, Monica, Spécola, Norma, Durand, Consuelo

المصدر: Journal of Neurology, Neurosurgery & Psychiatry; May2023, Vol. 94 Issue 5, p405-408, 4p

مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, EPILEPSY, PHENOTYPES, NEUROMUSCULAR diseases

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المؤلفون: Paiva, Anderson Rodrigues Brandão de, Pessoa, André Luiz Santos, Nóbrega, Paulo Ribeiro, Moreno, Cristiane Araujo Martins, Lynch, David S, Taniguti, Lucas Mitsuo, Kitajima, João Paulo, Freua, Fernando, Della-Ripa, Bruno, Cunha, Paulina, Peixoto de Barcelos, Isabella, Macedo-Souza, Lúcia Inês, Takeuchi, Carlos Augusto, Garcia, Antônio Milton Silva, Nardes, Flávia, Fontão, Ramiro, Antoniuk, Sérgio Antônio, Troncoso, Monica, Spécola, Norma, Durand, Consuelo, Madeiro, Bianca de Aguiar Coelho Silva, Doriqui, Maria Juliana Rodovalho, Vergara, Diane, Houlden, Henry, Kok, Fernando

المصدر: Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); 2023, Vol. 94 Issue: 5 p405-408, 4p