Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
Politei, Juan, 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
Published in Pediatric nephrology (Berlin, West) (01.11.2018)
Published in Pediatric nephrology (Berlin, West) (01.11.2018)
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Journal Article
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study
Frabasil, Joaquín, Durand, Consuelo, Sokn, Silvia, Gaggioli, Daniela, Carozza, Patricia, Carabajal, Ricardo, Politei, Juan, Schenone, Andrea B.
Published in JIMD reports (01.07.2019)
Published in JIMD reports (01.07.2019)
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Journal Article
Diagnosing mucopolysaccharidosis IVA
Wood, Timothy C., Harvey, Katie, Beck, Michael, Burin, Maira Graeff, Chien, Yin-Hsiu, Church, Heather J., D’Almeida, Vânia, van Diggelen, Otto P., Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara M., Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry N., Tylee, Karen, Yu, Chunli, Hendriksz, Christian J.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
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Journal Article
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
Drelichman, Guillermo I., Fernández Escobar, Nicolas, Soberon, Barbara C., Basack, Nora F., Frabasil, Joaquin, Schenone, Andrea B., Aguilar, Gabriel, Larroudé, Maria S., Knight, James R., Zhao, Dejian, Ruan, Jiapeng, Mistry, Pramod K.
Published in Molecular genetics and metabolism reports (01.12.2021)
Published in Molecular genetics and metabolism reports (01.12.2021)
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Journal Article
Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy
Politei, Juan, Schenone, Andrea B, Guelbert, Norberto, Fainboim, Alejandro, Szlago, Marina
Published in Archivos argentinos de pediatría (01.08.2015)
Published in Archivos argentinos de pediatría (01.08.2015)
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Journal Article
A repository based on a dynamically extensible data model supporting multidisciplinary research in neuroscience
Corradi, Luca, Porro, Ivan, Schenone, Andrea, Momeni, Parastoo, Ferrari, Raffaele, Nobili, Flavio, Ferrara, Michela, Arnulfo, Gabriele, Fato, Marco M
Published in BMC medical informatics and decision making (08.10.2012)
Published in BMC medical informatics and decision making (08.10.2012)
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Journal Article
Enfermedad de Morquio (mucopolisacaridosis IV-A): aspectos clínicos, diagnósticos y nuevo tratamiento con terapia de reemplazo enzimático
Politei, Juan, . Schenone, Andrea B, Guelbert, Norberto, Fainboim, Alejandro, Szlago, Marina
Published in Archivos argentinos de pediatría (01.08.2015)
Published in Archivos argentinos de pediatría (01.08.2015)
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Journal Article
Aromatic l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis
Abdenur, Jose E., Abeling, Nico, Specola, Norma, Jorge, Lia, Schenone, Andrea B., van Cruchten, Arno C., Chamoles, Nestor A.
Published in Molecular genetics and metabolism (2006)
Published in Molecular genetics and metabolism (2006)
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Journal Article
Fabry disease: the importance of the enzyme replacement therapy (TRE), treating quickly and efficiently
Juan Manuel Politei, Andrea B. Schenone, Norberto Antongiovanni, Ana María Cusumano, Gustavo Cabrera, Marina Szlago
Published in Revista de nefrología, diálisis y transplante (01.06.2014)
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Published in Revista de nefrología, diálisis y transplante (01.06.2014)
Journal Article
Enfermedad de Fabry: : la importancia de la terapia de reemplazo enzimático (TRE), tratar rápida y eficazmente
Cabrera, Gustavo, Szlago, Marina, Cusumano, Ana María, Schenone, Andrea, Politei, Juan Manuel, Antongiovanni, Norberto
Published in Revista de nefrología, diálisis y transplante (2014)
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Published in Revista de nefrología, diálisis y transplante (2014)
Journal Article
Chronic intestinal pseudo-obstruction: consider Fabry disease?
Politei, Juan, Durand, Consuelo, Schenone, Andrea B, Thurberg, Beth
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
Clinical, biochemical and molecular characteristics of five patients with late infantile neuronal ceroide lipofucsinosis type (CLN2 disease) phenotype clasical and atypical
Atanacio, Nora G., Durand, Consuelo, Villanueva, Mercedes, Masllorens, Francisca, Frabasil, Joaquin, Schenone, Andrea, Loos, Mariana
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Long term renal function in patients with Fabry disease
Politei, Juan, Heguilen, Ricardo, Cabrera, Gustavo, Bernasconi, Amelia, Durand, Consuelo, Joaquin, Frabasil, Schenone, Andrea Beatriz
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Mucopolysaccharidosis type VII: Selective retrospective screening detects 4 new cases
Frabasil, Joaquin, Durand, Consuelo, Sokn, Silvia, Carabajal, Ricardo, Carozza, Patricia, Gaggioli, Daniela, Politei, Juan, Schenone, Andrea B.
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article