Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Norma Specola"'
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101060- (2024)
Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional
Externí odkaz:
https://doaj.org/article/d1f6513168dd43cd873e78c97646f8bf
Autor:
Ana Chiesa, Norma Spécola, Monique Poubel, Marcela Vela-Amieva, Elaina Jurecki, Daniel RF Vilela, Débora Mesojedovas, Giovanna Cavalcanti Carneiro, Hernán Eiroa, Keila Hayashi Nakamura, Marcela Lopes de Almeida, Roberta Brandão Cunha, Tatiana Amorim, Ida Vanessa Doederlein Schwartz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101026- (2024)
Objective: To characterize adherence to Phenylketonuria (PKU) management practices among PKU patients treated at reference sites around Argentina, Brazil, and Mexico. Methods: This is a retrospective, observational, multicenter, and multinational sur
Externí odkaz:
https://doaj.org/article/b038d5ca4f6549c78195a752e821b2b7
Autor:
Rosa E. Enacán, Mariana Nuñez Miñana, Luis Fernandez, Maria Gabriela Valle, Mercedes Salerno, Claudia I. Fraga, Fernando Santos-Simarro, Laura Prieto, Pablo Lapunzina, Norma Specola, Ana Elena Chiesa
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). F
Externí odkaz:
https://doaj.org/article/edd477ecdcb448fb876c417d189c8904
Autor:
Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. E
Externí odkaz:
https://doaj.org/article/1e43991c7efe4b65b577dbeda655da5f
Autor:
Norma Specola
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 340-342 (2014)
Untreated phenylketonuria (PKU) causes cognitive, neuropsychological and motor skills impairment as well as microcephaly and demyelization. Persistent hyperphenylalaninemia produces toxicity on neurons and glial cells, alters cortical development, gr
Externí odkaz:
https://doaj.org/article/a9ba7dad0e2646719791563dfb4f538d
Autor:
Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768b402852aaa9ae171798302180500a
https://research.rug.nl/en/publications/2c098ef6-f19a-4318-89ba-1f1b7f93649b
https://research.rug.nl/en/publications/2c098ef6-f19a-4318-89ba-1f1b7f93649b
Autor:
André Luiz Santos Pessoa, Ana Maria Martins, Erlane Ribeiro, Norma Specola, Ana Chiesa, Daniel Vilela, Elaina Jurecki, Debora Mesojedovas, Ida Schwartz
Publikováno v:
Orphanet journal of rare diseases. 17(1)
Background Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1208b37997e8a9d8c60df6c9bbf8520
https://pubmed.ncbi.nlm.nih.gov/35907851
https://pubmed.ncbi.nlm.nih.gov/35907851
Autor:
Dolores González-Morón, Leila Cohen, Analisa Manin, Patricia Vega, Marta Córdoba, Marcelo Andrés Kauffman, Julieta Rosales, Sergio Alejandro Rodríguez-Quiroga, Hernán Amartino, Nancy Medina, Norma Specola
Publikováno v:
Annals of Human Genetics. 84:11-28
Introduction and objectives Leukodystrophies and genetic leukoencephalopathies constitute a vast group of pathologies of the cerebral white matter. The large number of etiopathogenic genes and the frequent unspecificity on the clinical-radiological p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef628be90a3394807a1cf6ad17ff96c1
https://doi.org/10.1111/ahg.12345
https://doi.org/10.1111/ahg.12345
Autor:
Norma, Specola
Publikováno v:
Archivos argentinos de pediatria. 106(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3511166bdafc6a0215b73c057f04bc9e
https://pubmed.ncbi.nlm.nih.gov/18766285
https://pubmed.ncbi.nlm.nih.gov/18766285
Autor:
Norberto Guelbert, Nora Atanacio, Inés Denzler, Emília Katiane Embiruçu, Nury Mancilla, Ricardo Naranjo, André Pessoa, Norma Spécola, Lina Tavera, Mónica Troncoso, Diane Vergara
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatr
Externí odkaz:
https://doaj.org/article/0154903b58e44bd79056b4765ea0ebc5