المؤلفون: Juan Politei, Gloria Liliana Porras‐Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz, José María Satizábal

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 104-113 (2021)

مصطلحات موضوعية: case series, enzyme replacement therapy, interruption, Morquio, MPS IVA, mucopolysaccharidosis IVA, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/f0fb260f41ed4795bd194a39e13c55a0Test

المؤلفون: Martha L. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço

المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)

مصطلحات موضوعية: Baseline data, ERT, Cessation, Interruption, Storage disease, Follow-up, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920300185Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/39510fa3b7144e4abecda9ad2130fbf7Test

المؤلفون: Juan Manuel Politei, Hugo Abensur, Norberto Antongiovanni, Diego Bar, Luis Barros, Joseph Brooks, Gustavo Cabrera, Kenneth Carazo, Alberto Ciceran, Wilfredo Cortés, Sonia De Maio, Juan Díaz Salvia, Karen Dublán García, Consuelo Durand, Víctor Espín, Alejandro Fainboim, Adrián Fernández, Sergio Figueroa, Macarena Franco, Griselda Gómez, Michel Gurdet, Ricardo Heguilén, Javier Ibarra, Sebastián Jaurretche, Georgina Loyola Rodríguez, Paula Luna, Ana Martins, Fernando Molt, Sandra Moraga Nuñez, Giselle Myer, Juana Navarrete, Juan Pérez García, Luis Pineda Galindo, Carla Postigo, Juan Prieto, Diego Ripeau, Gabriela Salas Pérez, Azucena Sánchez, Hargoon Santami, Andrea Schenone, Graciela Serebrinsky, Fátima Sierra, José Sobral, Lura Titievsky, Hernán Trimarchi, Guillermo Valadez, Carmen Varas Mundaca, Víctor Velazcor, Valeria Veloso, Jacobo Villalobos Jacobo

المصدر: Revista de Nefrología, Diálisis y Trasplante, Vol 37, Iss 1, Pp 21-28 (2017)

مصطلحات موضوعية: Enfermedad de Fabry, terapia de reemplazo enzimático, consensos, tratamiento, Medicine, Specialties of internal medicine, RC581-951

وصف الملف: electronic resource

العلاقة: http://www.revistarenal.org.ar/index.php/rndt/article/view/87Test; https://doaj.org/toc/0326-3428Test; https://doaj.org/toc/2346-8548Test

الوصول الحر: https://doaj.org/article/64cb5f483e6146c5828da9ad6804f53eTest

المؤلفون: Roberto Giugliani, Alejandro Fainboim, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Edna Tiemi Sakata, Ana Paula Damiano, Tatiana Sá Pacheco Carneiro Magalhães, Martha Solano Villareal

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)

مصطلحات موضوعية: lysosomal storage diseases, MPS, quality of life, ADL, cognition, mobility, pain, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100305&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/b757dc0f0d074a4f9ff26605fef66175Test

المؤلفون: Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami

المصدر: PLoS ONE, Vol 10, Iss 5, p e0124987 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/d2e2eaf3e691443aac855665f5d88ee5Test

المؤلفون: Gloria Liliana Porras-Hurtado, Norberto Guelbert, Juan Politei, Dafne Dain Gandelman Horovitz, Alejandro Fainboim, José María Satizábal

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 104-113 (2021)
JIMD Reports

مصطلحات موضوعية: Research Report, interruption, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, MPS IVA, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Short stature, Mucopolysaccharidosis Type IVA, chemistry.chemical_compound, Elosulfase alfa, Internal medicine, Internal Medicine, medicine, Respiratory function, lcsh:RC648-665, business.industry, Morquio, case series, nutritional and metabolic diseases, Research Reports, Enzyme replacement therapy, Airway obstruction, medicine.disease, Discontinuation, mucopolysaccharidosis IVA, lcsh:Genetics, chemistry, Dysplasia, sense organs, medicine.symptom, business, enzyme replacement therapy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5c6e86e83a2fc88b252c949cd5f567aTest
https://doi.org/10.1002/jmd2.12192Test

المؤلفون: Graciela Zuccaro, Hernán Eiroa, Hernan Amartino, Mariana Cazalas, Claudia Arberas, Adriana Berretta, Claudio A S Parisi, Guillermo Drelichman, Marcela Pereyra, Carmen De Cunto, Luisa Bay, Adriana Copiz, Alberto Maffey, Hugo Botto, Alejandro Fainboim, Virginia Fano, Graciela Espada, Andrea Schenone, Norberto Guelber, Alejandra Antacle, Rodrigo Remondino, Raquel Staciuk, Norma Spécola

المصدر: Archivos Argentinos de Pediatria. 119

مصطلحات موضوعية: 0301 basic medicine, Allergy, Pediatrics, medicine.medical_specialty, business.industry, Eye disease, Adult care, Enzyme replacement therapy, medicine.disease, 03 medical and health sciences, Mucopolysaccharidosis type I, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::27199487412c5fa7d22223a634696872Test
https://doi.org/10.5546/aap.2021.e193Test

المؤلفون: Hernán Eiroa, Hugo Botto, Alberto Maffey, Carmen De Cunto, Raquel Staciuk, Mariana Cazalas, Graciela Espada, Claudia Arberas, Adriana Copiz, Andrea Schenone, Rodrigo Remondino, Rorberto Guelber, Graciela Zuccaro, Norma Spécola, Alejandro Fainboim, Virginia Fano, Claudio A S Parisi, Marcela Pereyra, Alejandra Antacle, Guillermo Drelichman, Hernan Amartino, Adriana Berretta, Luisa Bay

المصدر: Archivos Argentinos de Pediatria. 119

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, medicine.diagnostic_test, business.industry, Mucopolysaccharidosis I, Argentina, 03 medical and health sciences, Mucopolysaccharidosis type I, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, Humans, Airway, Intensive care medicine, business, 030217 neurology & neurosurgery, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f00fce87e6c35ad4a0f761a7b43b27Test
https://doi.org/10.5546/aap.2021.eng.e121Test

المؤلفون: Luisa, Bay, Hernán, Amartino, Alejandra, Antacle, Claudia, Arberas, Adriana, Berretta, Hugo, Botto, Mariana, Cazalas, Adriana, Copiz, Carmen, De Cunto, Guillermo, Drelichman, Graciela, Espada, Hernán, Eiroa, Alejandro, Fainboim, Virginia, Fano, Norberto, Guelber, Alberto, Maffey, Claudio, Parisi, Marcela, Pereyra, Rodrigo, Remondino, Andrea, Schenone, Norma, Spécola, Raquel, Staciuk, Graciela, Zuccaro

المصدر: Archivos argentinos de pediatria. 119(3)

مصطلحات موضوعية: Adult, Neonatal Screening, Mucopolysaccharidosis I, Hypersensitivity, Infant, Newborn, Humans, Enzyme Replacement Therapy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ec053cad859fd5ed9342062ac105b2eaTest
https://pubmed.ncbi.nlm.nih.gov/34033424Test

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

المصدر: Pediatric Nephrology. 33:2095-2101

مصطلحات موضوعية: Male, Nephrology, medicine.medical_specialty, Adolescent, Biopsy, 030232 urology & nephrology, Urine, 030204 cardiovascular system & hematology, Gastroenterology, Podocyte, Nephropathy, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Internal medicine, medicine, Humans, Child, Prospective cohort study, Retrospective Studies, Sphingolipids, Kidney, medicine.diagnostic_test, Podocytes, business.industry, medicine.disease, Fabry disease, Microscopy, Electron, medicine.anatomical_structure, El Niño, Child, Preschool, Pediatrics, Perinatology and Child Health, Fabry Disease, Female, Kidney Diseases, Glycolipids, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::066d4f1bca75ddabbc3cae992a828fddTest
https://doi.org/10.1007/s00467-018-4006-3Test