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

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100701

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: 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

المؤلفون: Politei, Juan^Aff1, 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

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

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

Alternate Title: Notalgia paresthetica: Pruritus as marker of neurological damage (English)

المؤلفون: Politei, Juan Manuel, Schenone, Andrea Beatriz, Szlago, Marina

المصدر: In Neurología Argentina July-September 2014 6(3):164-168