Titulo:
Enfermedad de Pompe: reporte de caso
.
Guardado en:
1794-2470
2462-9448
14
2016-01-01
113
120
info:eu-repo/semantics/openAccess
http://purl.org/coar/access_right/c_abf2
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Enfermedad de Pompe: reporte de caso Arias, Sara Gómez, Mariana Fernández, Isabel Celis, Luis Gustavo Pompe disease GAA (α-1.4 lysosomal glucosidase (acid maltase) Consanguinity Cardiomyopathy Hypotonia Enfermedad de Pompe GAA (α-1,4 glucosidasa lisosomal (maltasa ácida) Consanguinidad Cardiomiopatía Hipotonía 14 25 Artículo de revista Journal article 2017-01-01 00:00:00 2017-01-01 00:00:00 2016-01-01 application/pdf Universidad Colegio Mayor de Cundinamarca y Universidad Nacional Abierta y a Distancia - UNAD NOVA 1794-2470 2462-9448 https://revistas.unicolmayor.edu.co/index.php/nova/article/view/473 10.22490/24629448.1743 https://doi.org/10.22490/24629448.1743 https://creativecommons.org/licenses/by-nc-sa/4.0/ 113 120 Bravo-Oro, A. Diagnóstico e intervenciones terapéuticas en la enfermedad de Pompe. Rev Med Inst Mex Seguro Soc. 2013; 51(5): 536-51 2. Byrne, BJ; Kishnani, PS; Case, LE; Merlini, L; MüllerFelber, W; Prasad, S; et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011; 103(1):1-11. 3. Jeong-A, L; Lishu, L; Nina, R. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci. 2014; 6(177). 4. Ans, T; Van der Ploeg, M; Clemens, P; Corzo, D. A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe’s Disease. N Engl J Med. 2010; 362:1396-1406. 5. Rare Disease Act 2002. An Act to amend the Public Health Service Act to establish an Office of Rare Diseases at the National Institutes of Health, and for other purposes. November 6, 2002. 6. Cortes, F. Las enfermedades raras. Revista médica Clínica Las Condes. 2015; 26(4): 425-431. 7. Chien, Y; Hwu, WY; Lee, NY. Pompe Disease: Early Diagnosis and Early Treatment Make a Difference. Pediatrics & Neonatology. 2013; 54(4); 219-227. 8. Sepp, E; Reuser, A; Lohi, H. A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds. PLOS ONE 2013. 9. Van, Carla. Newborn screening for pompe disease? a qualitative study exploring professional views. BMC Pediatr. 2014; 14(203) 10. Leslie, N; Tinkle, BT. Glycogen Storage Disease Type II (Pompe Disease). University of Washington, Seattle. 2007 11. Cupler, EJ; Berger, KI; Leshner, RT. AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012; 45:319–33. 12. American College of Medical Genetics. Pompe disease diagnosis and management guideline. Disponible en http://www.nature. com/gim/journal/v8/n5/abs/gim200650a.html. 2006. 13. Weinreich, SS; Rigter, T; Van El, CG; Dondorp, WJ. Public support for neonatal screening for Pompe disease, a broadphenotype condition. Orphanet J Rare Dis. 2012; 7(15). 14. Ross, LF; Waggoner, DJ. Parents: critical stakeholders in expanding newborn screening. J Pediatr. 2012; 161(3):385-9. 15. Dubrovsky, A; Fulgenzi, E; Amartino, H; Carlés, D; Corderi, J; De Vito, E. Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe. Neurología Argentina. 2014; 6(2): 96-113. 16. Han, S; Pope, R; Li, S; Kishnani, P; Steet, R; Koeberl, D. A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease. Molecular Genetics and Metabolism. 2016; 117(2):114-119. 17. Nausa, J. G. (2014). “Evaluación Clínica y radiográfica de injertos biocerámicos tipo Hidroxiapatita como alternativa en la reconstrucción de alveolos dentarios postexodoncia.” 18. Millan, J. and L. Yunda (2014). “An Open-Access Web-based medical image atlas for collaborative Medical image sharing, processing, Web Semantic searching and analysis with uses in medical training, research and second opinion of cases.” Nova 12(22): 143-150. ========================================== DOI: http://dx.doi.org/10.22490/24629448.1743 https://revistas.unicolmayor.edu.co/index.php/nova/article/download/473/864 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 http://purl.org/redcol/resource_type/ARTREF info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 Text Publication |
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UNIVERSIDAD COLEGIO MAYOR DE CUNDINAMARCA |
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| title |
Enfermedad de Pompe: reporte de caso |
| spellingShingle |
Enfermedad de Pompe: reporte de caso Arias, Sara Gómez, Mariana Fernández, Isabel Celis, Luis Gustavo Pompe disease GAA (α-1.4 lysosomal glucosidase (acid maltase) Consanguinity Cardiomyopathy Hypotonia Enfermedad de Pompe GAA (α-1,4 glucosidasa lisosomal (maltasa ácida) Consanguinidad Cardiomiopatía Hipotonía |
| title_short |
Enfermedad de Pompe: reporte de caso |
| title_full |
Enfermedad de Pompe: reporte de caso |
| title_fullStr |
Enfermedad de Pompe: reporte de caso |
| title_full_unstemmed |
Enfermedad de Pompe: reporte de caso |
| title_sort |
enfermedad de pompe: reporte de caso |
| author |
Arias, Sara Gómez, Mariana Fernández, Isabel Celis, Luis Gustavo |
| author_facet |
Arias, Sara Gómez, Mariana Fernández, Isabel Celis, Luis Gustavo |
| topic |
Pompe disease GAA (α-1.4 lysosomal glucosidase (acid maltase) Consanguinity Cardiomyopathy Hypotonia Enfermedad de Pompe GAA (α-1,4 glucosidasa lisosomal (maltasa ácida) Consanguinidad Cardiomiopatía Hipotonía |
| topic_facet |
Pompe disease GAA (α-1.4 lysosomal glucosidase (acid maltase) Consanguinity Cardiomyopathy Hypotonia Enfermedad de Pompe GAA (α-1,4 glucosidasa lisosomal (maltasa ácida) Consanguinidad Cardiomiopatía Hipotonía |
| citationvolume |
14 |
| citationissue |
25 |
| publisher |
Universidad Colegio Mayor de Cundinamarca y Universidad Nacional Abierta y a Distancia - UNAD |
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NOVA |
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https://revistas.unicolmayor.edu.co/index.php/nova/article/view/473 |
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Article |
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2016-01-01 |
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2017-01-01 00:00:00 |
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2017-01-01 00:00:00 |
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https://revistas.unicolmayor.edu.co/index.php/nova/article/view/473 |
| url_doi |
https://doi.org/10.22490/24629448.1743 |
| issn |
1794-2470 |
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2462-9448 |
| doi |
10.22490/24629448.1743 |
| citationstartpage |
113 |
| citationendpage |
120 |
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