المؤلفون: Pablo Neumann, Norberto Antongiovanni, Alejandro Fainboim, Isaac Kisinovsky, Hernán Amartino, Gustavo Cabrera, Sergio Carmona, Romina Ceci, Alberto Cicerán, Martín Choua, Griselda Doxastakis, Sonia De Maio, Roberto Ebner, Ana María Escobar, Gustavo Ferrari, Mariano Forrester, Norberto Guelbert, Paula Luna, Cinthia Marchesoni, Francisca Masllorens, Juan Politei, Ricardo Reisin, Diego Ripeau, Paula Rozenfeld, Graciela Serebrinsky, Ana Lía Tarabuso, Juan Trípoli

المصدر: Medicina (Buenos Aires), Vol 73, Iss 5, Pp 482-494 (2013)

مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, Enfermedad de Fabry, Diagnóstico, lcsh:R, lcsh:Medicine, lcsh:RC109-216, lcsh:RC581-607, Seguimiento, Terapia de reemplazo enzimático, Guía, lcsh:Infectious and parasitic diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::9a595ed0c376ec7c105e955b157cc734
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802013000600020&lng=en&tlng=en

المؤلفون: Guillermo Cáceres, Isaac Kisinovsky, Ricardo Reisin, Pablo Martínez, Norma Roa, Cintia Marchesoni, Pablo Neumann, Silvia Bianchi, Ana Lía Tarabuso, Ana Pardal

المصدر: The Journal of Pediatrics. 156:828-831

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Abdominal pain, Adolescent, Diagnosis, Differential, Young Adult, medicine, Humans, Diagnostic Errors, Young adult, Anhidrosis, Child, Aged, business.industry, Enzyme replacement therapy, Middle Aged, medicine.disease, Fabry disease, Pediatrics, Perinatology and Child Health, Neuropathic pain, Physical therapy, Fabry Disease, Rheumatic fever, Female, Differential diagnosis, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf15505903b808faf56f36ac19f9b53a
https://doi.org/10.1016/j.jpeds.2010.02.012

المؤلفون: Roberto Ebner, Ana Lía Tarabuso, Carlos A. Fossati, G Ramallo, Paula Rozenfeld

المصدر: Clinical Genetics. 69:344-348

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Alpha-galactosidase, biology, business.industry, Vascular disease, Disease, medicine.disease, Fabry disease, Family studies, Endocrinology, Internal medicine, Genetics, medicine, biology.protein, Lysosomal storage disease, Missense mutation, business, Genetics (clinical), Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::524fe9690273e99f8c82c9e4e181f65c
https://doi.org/10.1111/j.1399-0004.2006.00594.x

المؤلفون: Pablo, Neumann, Norberto, Antongiovanni, Alejandro, Fainboim, Isaac, Kisinovsky, Hernán, Amartino, Gustavo, Cabrera, Sergio, Carmona, Romina, Ceci, Alberto, Cicerán, Martín, Choua, Griselda, Doxastakis, Sonia, De Maio, Roberto, Ebner, Ana María, Escobar, Gustavo, Ferrari, Mariano, Forrester, Norberto, Guelbert, Paula, Luna, Cinthia, Marchesoni, Francisca, Masllorens, Juan, Politei, Ricardo, Reisin, Diego, Ripeau, Paula, Rozenfeld, Graciela, Serebrinsky, Ana Lía, Tarabuso, Juan, Trípoli

المصدر: Medicina. 73(5)

مصطلحات موضوعية: Male, Time Factors, Age Factors, Fabry Disease, Humans, Enzyme Replacement Therapy, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::749f248ef4a9f5304c8df84d681d87ee
https://pubmed.ncbi.nlm.nih.gov/24152410

المؤلفون: Ana Lía, Tarabuso

المصدر: Skinmed. 9(3)

مصطلحات موضوعية: Male, Sex Factors, Time Factors, Trihexosylceramides, alpha-Galactosidase, Mutation, Age Factors, Fabry Disease, Humans, Enzyme Replacement Therapy, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::97016d74bbe53bc469ff036607b41d2d
https://pubmed.ncbi.nlm.nih.gov/21675497