المؤلفون: Politei, Juan, Schenone, Andrea Beatriz, Burlina, Alessandro, Blanco, Mariana, Lescano, Sebastian, Szlago, Marina, Cabrera, Gustavo

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2014 2

مصطلحات موضوعية: Fabry disease, vertebrobasilar dolichoectasia, stroke, Fabry MRI, brain ischemia

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100801

المؤلفون: Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S

المصدر: Journal of Medical Genetics. 53(6)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Clinical Research, Mucopolysaccharidoses (MPS), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adolescent, Adult, Child, Child, Preschool, Female, Glucuronidase, Humans, Infant, Lysosomal Storage Diseases, Male, Mucopolysaccharidosis VII, Phenotype, Surveys and Questionnaires, Young Adult, Clinical genetics, Genetics, Metabolic disorders, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2g54h4x6

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: Neuroimaging assessment and multisystemic involvement description in a family with Fabry disease (English)

المؤلفون: Guelbert, Norberto, Politei, Juan, Szlago, Marina, Robledo, Hugo, Lescano, Sebastian, Giner de Ayala, Alicia, Angaroni, Celia

المصدر: In Neurología Argentina April-June 2015 7(2):100-104

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Alternate Title: Argentine consensus on the diagnosis, monitoring and treatment of Pompe disease (English)

المؤلفون: Dubrovsky, Alberto, Fulgenzi, Ernesto, Amartino, Hernán, Carlés, Daniel, Corderi, José, de Vito, Eduardo, Fainboim, Alejandro, Ferradás, Nélida, Guelbert, Norberto, Lubieniecki, Fabiana, Mazia, Claudio, Mesa, Lilia, Monges, Soledad, Pesquero, Joao, Reisin, Ricardo, Rugiero, Marcelo, Schenone, Andrea, Szlago, Marina, Taratuto, Ana Lia, Zgaga, Marisa

المصدر: In Neurología Argentina April-June 2014 6(2):96-113

المؤلفون: Juan Politei MD, Andrea Beatriz Schenone MD, Cabrera Gustavo MD, Antacle Alejandra MD, Szlago Marina MD

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/2c244d427ed64bf080fdc98d4fbe9965

Alternate Title: Practical approach to the diagnosis of inherited metabolic diseases. (English)

المؤلفون: SZLAGO, MARINA

المصدر: Medicina (Buenos Aires); 2022 Supplement, Vol. 82, p40-45, 6p

المؤلفون: Braslavsky, Débora, Scaglia, Paula Alejandra, Sanguineti, Nora María, Aza Carmona, Miriam, Nevado Blanco, Julián, Lapunzina Badia, Pablo D., Fernandez, Maria del Carmen, Ruiz, Olivia, Carmona, Alejandra, Szlago, Marina, Arberas, Claudia Liliana, Cassinelli, Hamilton Raul, Heath, Karen, Rey, Rodolfo Alberto, Bergadá, Ignacio

المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
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مصطلحات موضوعية: PEDIATRICS, BLINDNESS, purl.org/becyt/ford/3.2 [https], BONE FRACTURES, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, purl.org/becyt/ford/3 [https], OSTEOPOROSIS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::164cc8e135375437150406132682b7e1
https://www.sap.org.ar/docs/publicaciones/archivosarg/2020/v118n3a24.pdf

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