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1دورية أكاديمية
المؤلفون: Politei, Juan, Schenone, Andrea Beatriz, Gustavo, Cabrera, Alejandra, Antacle, Marina, Szlago
المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2015 3
مصطلحات موضوعية: spinal compression, galsulfase, glycosaminoglycans, dermatan sulfate, mucopolysaccharidosis VI
وصف الملف: text/html
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2دورية أكاديمية
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
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3دورية أكاديمية
المؤلفون: Ng, Bobby G, Eklund, Erik A, Shiryaev, Sergey A, Dong, Yin Y, Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J, Barr, Eileen, Bernstein, Jonathan A, Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K, Ciliberto, Michael A, Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D, Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S, Hoganson, George E, Houck, Kimberly M, Kohler, Jennefer N, Morava, Eva, Larson, Austin A, Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi JL, Miller, Rebecca, Monaghan, Kristin G, Nickerson, Deborah A, Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A, Scheffer, Ingrid E, Schenone, Andrea Beatriz, Schnur, Rhonda E, Si, Yue, Rowe, Leah J, Russi, Alvaro H Serrano, Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y, Webster, Richard I, Wilson, Dorcas, Zalan, Alice, Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases, Wolfe, Lynne A, Rosenfeld, Jill A, Rhodes, Lindsay, Freeze, Hudson H
المصدر: Journal of Inherited Metabolic Disease. 43(6)
مصطلحات موضوعية: Pediatric, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Diet, Ketogenic, Female, Glycosylation, Humans, Infant, Male, Mutation, N-Acetylglucosaminyltransferases, Spasms, Infantile, Transferrin, congenital disorders of glycosylation, epilepsy, N-linked glycosylation, whole exome sequencing, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3x16x320
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4دورية أكاديمية
المؤلفون: Politei, JuanAff1, 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
المصدر: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association . 33(11):2095-2101
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5دورية أكاديمية
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المؤلفون: Politei Juan, Gaggioli Daniela, Tanus Eduardo, Dominguez Raul, Szlago Marina, Amartino Hernan, Cabrera Gustavo, Larralde Margarita, Michref Antonio, Blanco Mariana, Schenone Andrea Beatriz
المصدر: JIMD Reports ISBN: 9783662445860
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Enzyme replacement therapy, medicine.disease, Left ventricular hypertrophy, Fabry disease, Article, Surgery, AGALSIDASE BETA, Internal medicine, Neuropathic pain, Medicine, Brain magnetic resonance imaging, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdb91f34fe5e68712216862be2925ddb
https://pubmed.ncbi.nlm.nih.gov/24850233 -
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Alternate Title: Notalgia paresthetica: Pruritus as marker of neurological damage (English)
المصدر: In Neurología Argentina July-September 2014 6(3):164-168