The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain. BioMed Research International, 2015, 1-5. High Variability of Fabry Disease Manifestations in an Extended Italian Family. Cammarata, Fatuzzo, Rodolico, Colomba, Sicurella, Iemolo, … Monte, I. Enfermedad de Fabry Una perspectiva histórica desde la semiología dermatológica hasta la correlación genética. BMC Neurology, 11 (61), recuperado de Camargo, J. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. Burlina, Sims, K., Politei, Bennett, Baron, Sommer, Torvin, A. Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis? PLoS ONE, 8(8), e71894. Doi:10.1007/s1054-x Böttcher, T., Rolfs, Tanislav, Bitsch, Köhler, W., Gaedeke, Duning, T. Journal of Inherited Metabolic Disease, 37(2), 177-187. Cognitive dysfunction and depression in Fabry disease: a systematic review. Diseases, recuperado de Bolsover, Murphy, Cipolotti, L., Werring, D. (2016), Biomarkers in Lysosomal Storage Diseases. The American Journal of Pathology, 185 (3), 651-665. A-Galactosidase A Knockout Mice Progressive Organ Pathology Resembles the Type 2 Later-Onset Phenotype of Fabry Disease. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.Journal of the American Society of Nephrology. Arends, M., Wanner, C., Hughes, D., Mehta, Oder, Watkinson, O., Elliott, P., Linthorst, Wijburg, F., Biegstraaten, M.
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Neuropsicología en Colombia: Datos normativos, estado actual y retos a futuro. Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischémie stroke and neurologic phenotype in Fabry disease. Therapeutics and Clinical Risk Management, 7, 69-82. Enzyme replacement therapy for Fabry disease: some answers but more questions. Autores: Mora Matallana, María Angélica, Castañeda Ibáñez, Nolly Nataly, Asesor, Alfadhel, M.