DSpace Repository
Evaluación neuropsicológica de un adulto con la enfermedad de Fabry en la ciudad de Bogotá, Colombia: estudio de caso.
- DSpace Home
- →
- Trabajos de Grado
- →
- Universitarios
- →
- Psicología
- →
- View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.
| dc.contributor.author | Gómez Suárez, Oscar Alejandro | |
| dc.contributor.author | Castañeda Ibáñez, Nolly Nataly; Asesor | |
| dc.coverage.spatial | Bogotá D.C. | es_ES |
| dc.date.accessioned | 2018-04-23T21:08:47Z | |
| dc.date.available | 2018-04-23T21:08:47Z | |
| dc.date.issued | 2017 | |
| dc.identifier.citation | Gómez,O. (2017).Evaluación neuropsicológica de un adulto con la enfermedad de Fabry en la ciudad de Bogotá, Colombia: estudio de caso. (Trabajo de grado). Corporación Universitaria Minuto de Dios, Bogotá-Colombia. | SPA |
| dc.identifier.uri | http://hdl.handle.net/10656/5973 | |
| dc.description.abstract | La Enfermedad Fabry, hace parte de las enfermedades de depósito lisosomal, que se clasifica dentro de los errores innatos del metabolismo, que es hereditaria y se encuentra ligada genéticamente al cromosoma X. Se caracteriza por la deficiencia de la enzima Alfa-galactosidasa A en las células, lo que dificulta la degradación del lípido denominado Globotriaosilceramida (GB3), lo que provoca su acumulación en la mayoría de los tejidos y órganos del cuerpo. Igualmente se encuentran manifestaciones a nivel neurocognitivo las cuales son heterogéneas, por lo cual el objetivo del presente estudio es determinar las características neuropsicológicas de un adulto masculino con la Enfermedad Fabry en Bogotá, Colombia, mediante la realización de un estudio de caso. | en |
| dc.language.iso | es | en |
| dc.publisher | Corporación Universitaria Minuto de Dios | en |
| dc.subject | Enfermedades | en |
| dc.subject | Características Neuropsicológicas | en |
| dc.subject | Enfermedad de Fabry | en |
| dc.subject | Neuropsicología | en |
| dc.title | Evaluación neuropsicológica de un adulto con la enfermedad de Fabry en la ciudad de Bogotá, Colombia: estudio de caso. | en |
| dc.type | Thesis | en |
| dc.subject.lemb | Neuropsicología | es |
| dc.subject.lemb | Ciencia cognoscitiva | es |
| dc.subject.lemb | Ciencia | es |
| dc.subject.lemb | Psicología Cognoscitiva | es |
| dc.publisher.program | Psicología | es_ES |
| dc.source.bibliographicCitation | Aguirre, E., Woods, R., Spector, A., & Orrell, M. (2013). Cognitive stimulation for dementia: A systematic review of the evidence of effectiveness from randomised controlled trials. Ageing Research Reviews, 12(1), 253-262. doi:10.1016/j.arr.2012.07.001 | |
| dc.source.bibliographicCitation | Alfadhel, M. & Sirris, S. (2011). Enzyme replacement therapy for Fabry disease: some answers but more questions. Therapeutics and Clinical Risk Management, 7, 69-82. | |
| dc.source.bibliographicCitation | Altarescu, G., Haim, S. & Elstein, D. (2013). Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischémie stroke and neurologic phenotype in Fabry disease. Biomakers, 18 (7), 595-600. | |
| dc.source.bibliographicCitation | Arango, L. J., & Rivera, D. (2015). Neuropsicología en Colombia: Datos normativos, estado actual y retos a futuro. | |
| dc.source.bibliographicCitation | Arends, M., Wanner, C., Hughes, D., Mehta, A., Oder, D., Watkinson, O., Elliott, P., Linthorst, G., Wijburg, F., Biegstraaten, M. & Hollak, C. (2016). Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.Journal of the American Society of Nephrology. doi:10.1681/asn.2016090964 | |
| dc.source.bibliographicCitation | Assareh, A., Mather, K. A., Schofield, P. R., Kwok, J. B., & Sachdev, P. S. (2010). The Genetics of White Matter Lesions. CNS Neuroscience & Therapeutics, 17(5), 525-540. doi:10.1111/j.1755-5949.2010.00181.x | |
| dc.source.bibliographicCitation | Azancot, M., Vila, J., Domínguez, C., Serres, X. y Espinel, E. (2016). Múltiples quistes parapiélicos en la enfermedad de Fabry. Neufrología. 36 (3), 310-312. | |
| dc.source.bibliographicCitation | Bangari, D., Ashe, k., Desnick, R., Maloney, C., Lydon, J., Piepenhagen, P., Budman, E., Leonard, J. Cheng, S., Marshall, J. & Thurberg, B. (2015). a-Galactosidase A Knockout Mice Progressive Organ Pathology Resembles the Type 2 Later-Onset Phenotype of Fabry Disease. The American Journal of Pathology, 185 (3), 651-665. doi.org/10.1016/j.ajpath.2014.11.004 | |
| dc.source.bibliographicCitation | Bersano, A., Lanfranconi, S., Valcarenghi, C., Bresolin, N., Micieli, G., & Baron, P. (2012). Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy. Acta Neurologica Scandinavica, 126(2), 77-97. doi:10.1111/j.1600- 0404.2012.01661.x | |
| dc.source.bibliographicCitation | Bobillo, J., Jiménez, M. y Jiménez, L. (2016), Biomarkers in Lysosomal Storage Diseases. Diseases, recuperado de http://www.mdpi.com/2079-9721/4/4/40 | |
| dc.source.bibliographicCitation | Bolsover, F., Murphy, E., Cipolotti, L., Werring, D. & Lachmann, R. (2014). Cognitive dysfunction and depression in Fabry disease: a systematic review. Journal of Inherited Metabolic Disease, 37(2), 177-187. doi:10.1007/s10545-013-9643-x | |
| dc.source.bibliographicCitation | Burlina, A., Sims, K., Politei, J., Bennett, G., Baron, R., Sommer, C., Torvin, A. & Hilz, M. (2011). Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurology, 11 (61), recuperado de http://bmcneurol.biomedcentral.com/articles/10.1186/1471-2377-11-61 | |
| dc.source.bibliographicCitation | Camargo, J. y Cantillo, J. (2009). Enfermedad de Fabry Una perspectiva histórica desde la semiología dermatológica hasta la correlación genética. Acta médica colombiana, 34 (3), 140-151. | |
| dc.source.bibliographicCitation | Chillon, J., Brazier, F., Bouquet, P., & Massy, Z. (2014). Neurological Disorders in a Murine Model of Chronic Renal Failure. Toxins, 6(1), 180-193. doi:10.3390/toxins6010180 | |
| dc.source.bibliographicCitation | Choi, L., Vernon, J., kopach, O., Minett, M., Mills, K., Clayton, P., Meert, T. & Wood, J. (2015). The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain. Neuroscience Letters, 594, 163-168. doi:10.1016/j.neulet.2015.01.084 | |
| dc.source.bibliographicCitation | Congreso de Colombia. (2010). LEY 1392 DE 2010. (Secretaría General de la Alcaldía Mayor De Bogotá D.C.). Recuperado de: http://www.alcaldiabogota.gov.co/sisjur/normas/Norma1.jsp?i=39965 | |
| dc.source.bibliographicCitation | Congreso de Colombia. (2011). Ley 1438 DE 2011. (Secretaría General de la Alcaldía Mayor De Bogotá D.C.). Recuperado de: http://www.alcaldiabogota.gov.co/sisjur/normas/Norma1.jsp?i=41355#140 | |
| dc.source.bibliographicCitation | Cruz, C., Olivares, O., & González, G. (2014). Metodología de la investigación. Mexico: Grupo Editorial Patria. | |
| dc.source.bibliographicCitation | Daghfous, A., Toledano, E., Kalsoum, E., Tempremant, F., Boulanger, T., Leclerc, X. & Pruvo, J. (2015). Fabry disease. Diagnostic and Interventional Imaging, 96(3), 307-309. doi:10.1016/j.diii.2014.02.021 | |
| dc.source.bibliographicCitation | Davey, P. (2014). Fabry disease: a survey of visual and ocular symptoms. Clinical Ophthalmology, 8, 1555-1560. doi:10.2147/opth.s66748 | |
| dc.source.bibliographicCitation | Ducuara, D. y Saravia, I. (2015). Prevalencia de enfermedad de Fabry en pacientes en lista de trasplante y post- trasplante renal en fundación Cardioinfantil Bogotá (Tesis de posgrado). Universidad del Rosario, Bogotá, Colombia. | |
| dc.source.bibliographicCitation | Elstein, D., Doniger, G., Simon, E., & Altarescu, G. (2010). Computerized cognitive testing in patients with Fabry disease: A descriptive pilot study. Molecular Genetics and Metabolism,99(2), S17-S18. doi:10.1016/j.ymgme.2009.10.064 | |
| dc.source.bibliographicCitation | Fukutomi, M., Tanaka, N., Uchinoumi, H., Kanemoto, M., Nakao, F., Yamada, J.… Fujii, T. (2013). Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P. Journal of Cardiology, 62(1), 63-69. doi:10.1016/j.jjcc.2013.02.012 | |
| dc.source.bibliographicCitation | Gairing, S., Wiest, R., Metzler, S., Theodoridou, A., & Hoff, P. (2011). Fabry’s Disease and Psychosis: Causality or Coincidence? Psychopathology, 44(3), 201-204. doi:10.1159/000322794 | |
| dc.source.bibliographicCitation | Galvis, W., Santacoloma, G. y Jaramillo, F. (2014). Enfermedad de Fabry. Revista de la asociación colombiana de Dermatología y cirugía dermatológica, 22(1), 81- 85. | |
| dc.source.bibliographicCitation | García, L. (2011). Consenso para el estudio y tratamiento de la enfermedad de Fabry. Fundación GETER. Med Clin (Barc), 137(4):178–183. doi:10.1016/j.medcli.2011.02.024 | |
| dc.source.bibliographicCitation | Germain, D. (2010). Fabry disease. Orphanet Journal of Rare Diseases, 5, 30. http://doi.org/10.1186/1750-1172-5-30 | |
| dc.source.bibliographicCitation | Germain, D., Hughes, D., Nicholls, K.., Bichet, D., Giugliani, R., Wilcox, W., Feliciani, C…. Schiffmann, R. (2016). Treatment of Fabry Disease with the Pharmacological Chaperone Migalastat. The New England Journal of Medicine, 375 (6), 545-555. | |
| dc.source.bibliographicCitation | González C., Arenas, C. y Jaimes, A. (2013). Enfermedad de Fabry. Diagnóstico dermatológico temprano y tratamiento. Piel, 28(3), 134-136. doi:10.1016/j.piel.2012.08.002 | |
| dc.source.bibliographicCitation | Guerrero, G. (2014). Metodología de la Investigación (1st ed.). México D.F.: Grupo Editorial Patria | |
| dc.source.bibliographicCitation | Hebben, N., Milberg, W. (2011). Fundamentos para la evaluación neuropsicológica. (Veléz, G. Trad.). México: Editorial Manual Moderno (Trabajo original publicado en el 2009) | |
| dc.source.bibliographicCitation | Hernández, R., Fernández C. y Baptista, P. (2010). Metodología de la investigación (5ta edición). México DF, México: McGra-Whill Interamericana Editores S.A. | |
| dc.source.bibliographicCitation | Herrera, J. (2008). Enfermedad de Fabry: una forma de enfermedad renal crónica diagnosticable y tratable. Nefrología, 28 (8), 13- 19. | |
| dc.source.bibliographicCitation | Hossain, M., Yanagisawa, H., Miyajima, T., Wu, C., Takamura, A., Akiyama, K., Itagaki, R., Eto, K, Iwamoto, T., Yokoi, T., Kurosawa, K., Numabe, H. & Eto, Y. (2017). The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.Molecular Genetics and Metabolism, 120(3), 173-179. doi:10.1016/j.ymgme.2017.01.002 | |
| dc.source.bibliographicCitation | Hsu, T., Hung, S., Chang, Fu, Yu, W., Sung, S., Hsu, S., Dzhagalov, I., Yang, C., Chu, T., Lee, H., Lu, Y., Chang, S., Liao, H., Lin, H., Liao, T., Lee, P., Li, H., Yang, A., Ho, H. Chiang, C., Lin, C., Desnick, R. & Niu, D. (2016). Later onset Fabry Disease, cardiac damage progress in silence. Journal of American College of Cardiology, 68 (23), 2554- 2563. | |
| dc.source.bibliographicCitation | Jain, G. & Warnock, D. (2011). Blood pressure, Proteinuria and Nephropathy in Fabry Disease. Nephron Clinical Practice, 118, 43-48. | |
| dc.source.bibliographicCitation | Judge, D., Okwousa, I. & Hagège, A. (2016). GLA-Ring Opportunities and Challenges for Fabry Disease. Journal of the American College of Cardiology, 68 (23), 2264-2566. | |
| dc.source.bibliographicCitation | Juliao, C. (2011). El enfoque praxeológico (1st ed.). Bogotá, Colombia: Corporación Universitaria Minuto de Dios – Uniminuto. | |
| dc.source.bibliographicCitation | Kaneski, C., Brady, R., Hanover, J. & Schueler, U. (2016). Development of a model system for neuronal dysfunction in Fabry disease. Molecular Genetics and Metabolism, 119, 144- 150 | |
| dc.source.bibliographicCitation | Kobayashi, M., Ohashi, T., Iizuka, S., Kaneshiro, E., Higuchi, T., Eto, Y., & Ida, H. (2014). Frequency of de novo mutations in Japanese patients with Fabry disease. Molecular Genetics and Metabolism Reports, 1, 283-287. doi:10.1016/j.ymgmr.2014.07.001 | |
| dc.source.bibliographicCitation | Kusano, E., Saito, O., Akimoto, T. & Asano, Y.(2014). Fabry disease: experience of screening dialysis patients for Fabry disease. Clinical and Experimental Nephrology, 269-273. | |
| dc.source.bibliographicCitation | Kubo, T., Ochi, Y., Baba, Y., Hirota, T., Tanioka, K., Yamasaki, N., Yoshimitsu, M., Higuchi, K., Toshihiro, T., Nakajima, K., Togawa, T., Tsukimura, T., Sano, S., Tei, C., Sakuraba, H. & Kitaoka, H. (2017). Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. Journal of Cardiology, 69(1), 302-307. doi:10.1016/j.jjcc.2016.05.014 | |
| dc.source.bibliographicCitation | Lakomá, J., Donadio, V., Liguori, R., & Caprini, M. (2015). Characterization of Human Dermal Fibroblasts in Fabry Disease. Journal of Cellular Physiology, 231(1), 192-203. doi:10.1002/jcp.25072 | |
| dc.source.bibliographicCitation | Laney, D., Gruskin, D., Fernhoff, P., Ousley, O., Hipp, H. & Mehta, A. (2010). Social-Adaptive and psychological functioning of patients affected by Fabry disease. Journal of Inheredit Metabolism Diseases, 33, 73-81 | |
| dc.source.bibliographicCitation | Lelieveld, I., Böttcher, A., Hennermann, J., Beck, M., & Fellgiebel, A. (2015). Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease. PLOS ONE, 10(9), e0137603. doi:10.1371/journal.pone.0137603 | |
| dc.source.bibliographicCitation | Ley N. 1090. Diario Oficial No. 46.383 de la Republica de Colombia. Congreso de Colombia, 6 de Septiembre del 2006 | |
| dc.source.bibliographicCitation | Lin, H.-Y., Liu, H.-C., Huang, Y.-H., Liao, H.-C., Hsu, T.-R., Shen, C.-I., … Niu, D.-M. (2013). Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). BMJ Open, 3(7), e003146. http://doi.org/10.1136/bmjopen-2013-003146 | |
| dc.source.bibliographicCitation | Lidove, O., Barbey, F., Niu, D., Brand, E., Nicholls, K., Bizjajeva, S., & Hughes, D. (2016). Fabry in the older patient: Clinical consequences and possibilities for treatment. Molecular Genetics and Metabolism, 118(4), 319-325. doi:10.1016/j.ymgme.2016.05.009 | |
| dc.source.bibliographicCitation | Lidove, O., Jaussaud, R. & Aractingi, S. (2006) Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy. En A. Mehta, M. Beck & G. Sunder-Plassmann (ED.), Fabry Disease: Perspectives from 5 Years of FOS (Capitulo 24). Oxford: Oxford PharmaGenesis. Recuperado en https://www.ncbi.nlm.nih.gov/books/NBK11605/ | |
| dc.source.bibliographicCitation | López-Bastida, J., Oliva-Moreno, J., Linertová, R., & Serrano-Aguilar, P. (2016). Social/economic costs and health-related quality of life in patients with rare diseases in Europe. The European Journal of Health Economics, 17(S1), 1-5. doi:10.1007/s10198- 016-0780-7 | |
| dc.source.bibliographicCitation | Marek, R., Cooklin, M., Carr-White, G., & O’Neill, M. (2016). Atrial Tachycardia in a Patient with Fabry’s Disease. HeartRhythm Case Reports, 2(2), 124-127. doi:10.1016/j.hrcr.2015.10.007 | |
| dc.source.bibliographicCitation | Molina, A. (2017). Anomalías Vasculares. En Amaya, P., Chávez, A. y Robledo, S. (Coordinadores). Primera Jornada de Actualización en Enfermedades Huérfanas. Ministerio de Salud y Protección Social – Universidad Nacional de Colombia, Bogotá, Colombia. | |
| dc.source.bibliographicCitation | Naaman, R. (2013). Lysosomal storage diseases-the horizon expands. Nature Reviews, 9, 583- 598. | |
| dc.source.bibliographicCitation | Nagano, T., Nakatsuka, S., Fujita, S., Kanda, T., Uematsu, M., Ikeda, Y., Ishabashi, H. & Yutani, C. (2016). Myocardial fibrosis pathology in Anderson–Fabry disease: Evaluation of autopsy cases in the long- and short-term enzyme replacement therapy, and non-therapy case. IJC Metabolic & Endocrine, 12, 46-51. doi:10.1016/j.ijcme.2016.06.002 | |
| dc.source.bibliographicCitation | Nageswaramma, S., Swarna, G., Rajashekar, P., Sowmya, S. & Sirisha, G. (2015). Angiokeratoma Corporis Diffusum - A case report. Journal of Dental and Medical Sciences, 14 (1), 11-13. | |
| dc.source.bibliographicCitation | National Kidney Foundation. (2016). Clinical update Fabry Disease and Chronic Kidney Disease. Retrieved from https://www.kidney.org/sites/default/files/02-10-7244_CBGFabry_Bulletin-5b.pdf | |
| dc.source.bibliographicCitation | Niemann, M., Herrmann, S., Hu, K., Breunig, F., Strotmann, J., Beer, M., Machann, W., Voelker, W., Ertl, G., Wanner, F. & Weidemann, F. (2011). Differences in Fabry Cardiomyopathy Between Female and Male Patients. JACC: Cardiovascular Imaging, 4(6), 592-601. doi:10.1016/j.jcmg.2011.01.020 | |
| dc.source.bibliographicCitation | Nowak, A., Mechtler, T., Desnick, R. & Kasper, D. (2017). Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. Molecular genetics and Metabolism, 120, 57-61. | |
| dc.source.bibliographicCitation | Ortiz, A., Abiose, A., Bichet, D., Cabrera, G., Charrow, J., Germain, D., Hopkin, R., Jovanovic, A., Linhart, A. Maruti, S., Mauer, M., Oliveira, J., Patel, M., Politeli, J., Waldek, S., Wanner, C., Yoo, H. & Warnock, D. (2016). Time to treatment benefit for adults patients with Fabry disease receiving agalsidase β: Data from the Fabry Registry. Journal of Medical Genetics, 53, 495-502. | |
| dc.source.bibliographicCitation | Patel, M. R., Cecchi, F., Cizmarik, M., Kantola, I., Linhart, A., Nicholls, K., Strongman, J., Tallaj, J., Chien, T., West, M., Beitner, D. & Abiose, A. (2010). Cardiovascular events in patients with fabry disease: natural history data from the fabry registry. Journal of the American College of Cardiology, 55(10), 1093-1099. doi:10.1016/s0735-1097(10)60292- 6 | |
| dc.source.bibliographicCitation | Peña-Casanova, J. (2005) Programa Integrado de Exploración Neuropsicológica. Test Barcelona Revisado. Barcelona: Masson | |
| dc.source.bibliographicCitation | Pinto, L., Vieira, T., Giugliani, R. & Schwartz, I. (2010). Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Orphanet Journal of Rare Diseases, 5(14). DOI: 10.1186/1750-1172-5-14 | |
| dc.source.bibliographicCitation | Pinto, D., Parra, O. y Verano, R. (2008). La carga económica de la enfermedad de Gaucher y Fabry en Colombia. Implicaciones para el Sistema General de Seguridad social en Salud de dos enfermedades de alto costo. FEDESAROLLO. Recuperado de http://hdl.handle.net/11445/1009 | |
| dc.source.bibliographicCitation | Pisani, A., Riccio, E. & Sabbatini, M. (2015). Agalsidase alfa and agalsidase beta in the treatment of Fabry disease: does the dose really matter?. American College of Medical Genetics and Genomics, 17 (1), 21-23 | |
| dc.source.bibliographicCitation | Politei, J. M., Bouhassira, D., Germain, D. P., Goizet, C., Guerrero‐Sola, A., Hilz, M. J., Burlina, A. et. al. (2016). Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment. CNS Neuroscience & Therapeutics, 22(7), 568–576. http://doi.org/10.1111/cns.12542 | |
| dc.source.bibliographicCitation | Platt, F., Boland, B. & Van der Spoel, A. (2012). Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. The Journal of Cell Biology, 199 (5), 723-734. | |
| dc.source.bibliographicCitation | Razza, G., Spadaro, D., Giordano, A., Scalia, S., Colomba, P., Zizzo, C.,… Iemolo, F. (2016). Cognitive impairment and Fabry Disease: a case report with mutation S126G.Neuropsychological Trends, (20), 173-185. doi:10.7358/neur-2016-020-razz | |
| dc.source.bibliographicCitation | Rob, D., Marek, J., Dostálová, G., Golán, L. & Linhart, A. (2016). Uric Acic as a Maker of Mortality and Morbidity in Fabry Disease. PLoS ONE, 11 (11), 1-13. recuperado de http://dx.doi.org/10.1371/journal.pone.0166290 | |
| dc.source.bibliographicCitation | Rosas, R., Tenorio, M., Pizarro, M., Cumsille, P., Bosch, A., & Zapata-Sepúlveda, P. (2014). Estandarización de la Escala Wechsler de Inteligencia Para Adultos-Cuarta Edición en Chile [Tabla]. Psykhe (Santiago), 23(1), 1-18. doi:10.7764/psykhe.23.1.529 | |
| dc.source.bibliographicCitation | Sánchez, M., Gálvez, S., Ortiz, P., y López, A. (2010). Paciente afecta de enfermedad de Fabry. Revista de la Sociedad Española de Enfermería Nefrológica, 13(1), 82-85. Recuperado de http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S113913752010000100009&lng =es&tlng=es | |
| dc.source.bibliographicCitation | Schermuly, I., Müller, M., Müller, K., Albrecht, J., Keller, I., Yakushev, I., Beck, M. & Fellgiebel, A. (2011). Neuropsychiatric symptoms and brain structural alterations in Fabry disease. European Journal of Neurology, 18, 347-353. | |
| dc.source.bibliographicCitation | Schiffmann, R., Hughes, D., Linthorst, G., Ortiz, A., Svarstad, E., Warnock, D., West, M. & Wanner, C. (2017). Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney International, 91, 284-293. | |
| dc.source.bibliographicCitation | Segal, P., Kohn, Y., Pollak, Y., Altarescu, G., Galili-Weisstub, E., & Raas-Rothschild, A. (2010). Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study. Journal of Inherited Metabolic Disease, 33(4), 429-436. doi:10.1007/s10545-010-9133-3 | |
| dc.source.bibliographicCitation | Shi, Q., Chen, J., Pongmoragot, J.& Saposnik, G. (2013). Prevalence of Fabry Disease in Stroke Patients -A Systematic Review and Meta-analysis. Journal of stroke and cerebrovascular diseases: the official journal of National Stroke Association, 23 (5), 1-8. doi: http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2013.08.010 | |
| dc.source.bibliographicCitation | Serebrinsky, G., Calvo, M., Fernandez, S., Saito, S., Ohno, K., Wallace, E., Politei, J. (2015). Late onset variants in Fabry disease: Results in high-risk population screenings in Argentina.Molecular Genetics and Metabolism Reports, 4, 19-24. doi:10.1016/j.ymgmr.2015.05.006 | |
| dc.source.bibliographicCitation | Sigmundsdottir, L., Tchan, M., Knopman, A. Menzies, G., Batchelor, J. & Sillence, D. (2014). Cognitive and Psychological Functioning in Fabry Disease. Archives of Clinical Neuropsychology 29, 642–650. doi:10.1093/arclin/acu047 | |
| dc.source.bibliographicCitation | Silva, J., Rochford, L., Hopkin, R. & Jefferies, J. (2016). Ventricular Tachycardia in Fabry Disease. Texas Heart Institute Journal, 43 (6), 531-533. | |
| dc.source.bibliographicCitation | Smid, B., Van der Tol, L., Cecchi, F., Elliott, P., Hughes, D., Linthorst, G., Timmermans, J., Weidemann. F., West, M., Biegstraaten, M., Lekanee, R., Florquin, S., Postema, P., Tomberli, M., van der Wal, A., van der Bergh, M. & Hollak, C. (2014). Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. International Journal of Cardiology, 177(2), 400-408. doi:10.1016/j.ijcard.2014.09.001 | |
| dc.source.bibliographicCitation | Soto, A., Díaz, R., De los Ríos, D.y García, G. (2010). Enfermedad de Fabry: Evento vascular cerebral en un joven y su abordaje diagnóstico. Revista Mexicana de Neurociencia, 11 (5), 359-362. | |
| dc.source.bibliographicCitation | Suzuki, Y. (2013). Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease. Brain and Development, 35(6), 515-523. doi:10.1016/j.braindev.2012.12.002 | |
| dc.source.bibliographicCitation | Tamayo, F., Casals-Coll, M., Sánchez-Benavides, G., Quintana, M., Manero, R., Rognoni, T., Peña-Casanova, J. (2012). Estudios normativos españoles en población adulta joven (Proyecto NEURONORMA jóvenes): normas para las pruebas span verbal, span visuoespacial, Letter-Number Sequencing, Trail Making Test y Symbol Digit Modalities Test. Neurología, 27(6), 319-329. doi:10.1016/j.nrl.2011.12.020 | |
| dc.source.bibliographicCitation | Thimmaiah, R., Murthy, K., & Pinto, D. (2012). Cognitive dysfunction in patients with renal failure requiring hemodialysis. Indian Journal of Psychological Medicine, 34(3), 237. doi:10.4103/0253-7176.106019 | |
| dc.source.bibliographicCitation | Tuttolomondo, A., Pecoraro, R., Simonetta, I., Miceli, S., Pinto, A., & Licata, G. (2013). Anderson-Fabry Disease: A Multiorgan Disease. Current Pharmaceutical Design, 19(33), 5974-5996. doi:10.2174/13816128113199990352 | |
| dc.source.bibliographicCitation | Underhill, H., Golden-Grant, K., Garrett, L., Uhrich, S., Zielinski, B., & Scott, C. (2015). Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging. Journal of Magnetic Resonance Imaging, 42(6), 1611-1622. doi:10.1002/jmri.24952 | |
| dc.source.bibliographicCitation | Uribe, A., Mateus, H., Prieto, J., Palacios, M., Ospina, S., Pasqualim, G., Silveira, U. y Giugligani, R. (2015). Identification of mutations in Colombian patients affected with Fabry disease. Gene, 574, 325-329. doi: http://dx.doi.org/10.1016/j.gene.2015.08.018 | |
| dc.source.bibliographicCitation | Varas, C., Gómez, G., Morales, M., Molt, F., Cabello, J., Alcántara, A., … Peredo, P. (2012). Guía clínica: consenso para Chile en enfermedad de Fabry. Revista chilena de neuropsiquiatría, 50(3), 191-201. doi:10.4067/s0717-92272012000300009 | |
| dc.source.bibliographicCitation | Vega, O., Pérez, A., & Correa, R. (2011). La enfermedad de Fabry-Anderson: estado actual del conocimiento. Revista de Investigación Clínica, 63(3), 314-321. | |
| dc.source.bibliographicCitation | Villalobos, J., Politei, J., Martins, A., Cabrera, G., Amartino, H., Lemay, R., Ospina, S., Suárez, S. y Varas, C. (2012). Fabry Disease in Latin America: Data from the Fabry Registry. Journal of Inherited Metabolic Disease, 165, 91-99. | |
| dc.source.bibliographicCitation | Waldek, S., & Feriozzi, S. (2014). Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy? BMC Nephrology, 15, 72. http://doi.org/10.1186/1471-2369-15-72 | |
| dc.source.bibliographicCitation | Waldek, S., Patel, M., Banikazemi, M., Lemay, R., & Lee, P. (2009). Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry. Genetics in Medicine, 11(11), 790-796. doi:10.1097/gim.0b013e3181bb05bb | |
| dc.source.bibliographicCitation | Wechsler, D. (2014), Escala Wechsler de Inteligencia para Adultos IV (WAIS-IV). 3ra edición. Editorial Manual Moderno. ISBN 978- 607- 448- 355-0 | |
| dc.source.bibliographicCitation | Wu, C., Lu, Y., Lu, C., & Wu, C. (2015). Familial angiokeratoma corporis diffusum without identified enzyme defect. Indian Journal of Dermatology, Venereology, and Leprology, 81(1), 46. doi:10.4103/0378-6323.148568 | |
| dc.source.bibliographicCitation | Yates, L., Orgeta, V., Leung, P., Spector, A., & Orrell, M. (2016). Field-testing phase of the development of individual cognitive stimulation therapy (iCST) for dementia. BMC Health Services Research, 16(1). doi:10.1186/s12913-016-1499-y |
