Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico

Autores:: Florez Romero , Andres
Rojas , William
Reverend L. , Carlos
Torres , Lilian
Quintero , Gloria

Tipo de recurso:: Article of journal

Fecha de publicación:: 2021

Institución:: Fundación Universitaria de Ciencias de la Salud - FUCS

Repositorio:: Repositorio Digital Institucional ReDi

Idioma:: spa

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dc.title.spa.fl_str_mv	Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico
dc.title.translated.eng.fl_str_mv	Aryl hydrocarbon receptor interacting protein (AIP): genetics, biochemistry and clinical impact
title	Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico
spellingShingle	Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico proteína moduladora de la actividad del receptor de aril hidrocarburos neoplasias hipofisarias enfermedades de la hipófisis acromegalia gigantismo aryl hydrocarbon receptor interacting protein pituitary neoplasia pituitary diseases acromegaly gigantism
title_short	Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico
title_full	Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico
title_fullStr	Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico
title_full_unstemmed	Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico
title_sort	Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico
dc.creator.fl_str_mv	Florez Romero , Andres Rojas , William Reverend L. , Carlos Torres , Lilian Quintero , Gloria
dc.contributor.author.spa.fl_str_mv	Florez Romero , Andres Rojas , William Reverend L. , Carlos Torres , Lilian Quintero , Gloria
dc.subject.spa.fl_str_mv	proteína moduladora de la actividad del receptor de aril hidrocarburos neoplasias hipofisarias enfermedades de la hipófisis acromegalia gigantismo
topic	proteína moduladora de la actividad del receptor de aril hidrocarburos neoplasias hipofisarias enfermedades de la hipófisis acromegalia gigantismo aryl hydrocarbon receptor interacting protein pituitary neoplasia pituitary diseases acromegaly gigantism
dc.subject.eng.fl_str_mv	aryl hydrocarbon receptor interacting protein pituitary neoplasia pituitary diseases acromegaly gigantism
publishDate	2021
dc.date.accessioned.none.fl_str_mv	2021-04-07 14:55:28 2022-06-29T19:37:38Z
dc.date.issued.none.fl_str_mv	2021-04-07
dc.date.available.none.fl_str_mv	2021-04-07 14:55:28 2022-06-29T19:37:38Z
dc.type.spa.fl_str_mv	Artículo de revista
dc.type.eng.fl_str_mv	Journal article
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dc.identifier.doi.none.fl_str_mv	10.31260/RepertMedCir.01217273.888
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dc.language.iso.spa.fl_str_mv	spa
language	spa
dc.relation.references.spa.fl_str_mv	Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006;312(5777):1228-30. doi: 10.1126/science.1126100 Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain- Rea ML, Barlier A, et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab. 2010;95(11):E373-83. doi: 10.1210/jc.2009-2556 Beckers A, Aaltonen LA, Daly AF, Karhu A. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev. 2013;34(2):239-77. doi: 10.1210/er.2012-1013 AIP Gene (Protein Coding). Aryl Hydrocarbon Receptor Interacting Protein [Internet]. The GeneCards human gene database; [citado 2019 enero]; Recuperado de: https://www.genecards.org/cgi-bin/ carddisp.pl?gene=AIP. Exon Structure for AIP [Internet]. GeneLoc Genome Locator; [citado 2019 enero]; Recuperado de: https://genecards.weizmann. ac.il/geneloc-bin/exon_struct.pl?disp_name=AIP&chr_nr=11).. Gadelha MR, Trivellin G, Hernández Ramírez LC, Korbonits M. Genetics of pituitary adenomas. Front Horm Res. 2013;41:111-40. doi: 10.1159/000345673 Hernández-Ramírez LC, Martucci F, Morgan RM, Trivellin G, Tilley D, Ramos-Guajardo N, et al. Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations. J Clin Endocrinol Metab. 2016;101(8):3144-54. doi: 10.1210/jc.2016- 1307 Lecoq AL, Viengchareun S, Hage M, Bouligand J, Young J, Boutron A, et al. AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells. Endocr Relat Cancer. 2016;23(5):433-43. doi: 10.1530/ERC-16-0041 Tuominen I, Heliövaara E, Raitila A, Rautiainen MR, Mehine M, Katainen R, et al. AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling. Oncogene. 2015;34(9):1174-84. doi: 10.1038/onc.2014.50 Hernández-Ramírez LC, Trivellin G, Stratakis CA. Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants. Horm Metab Res. 2017;49(4):286-95. doi: 10.1055/s-0043-104700 Trivellin G, Korbonits M. AIP and its interacting partners. J Endocrinol. 2011;210(2):137-55. doi: 10.1530/JOE-11-0054 Lloyd C, Grossman A. The AIP (aryl hydrocarbon receptor- interacting protein) gene and its relation to the pathogenesis of pituitary adenomas. Endocrine. 2014;46(3):387-96. doi: 10.1007/ s12020-013-0125-6 Fajardo-Montañana C, Daly AF, Riesgo-Suárez P, Gómez-Vela J, Tichomirowa MA, Camara-Gómez R, et al. [AIP mutations in familial and sporadic pituitary adenomas: local experience and review of the literature]. Endocrinol Nutr. 2009;56(7):369-77. doi: 10.1016/S1575-0922(09)72456-8 Cannavo S, Trimarchi F, Ferraù F. Acromegaly, genetic variants of the aryl hydrocarbon receptor pathway and environmental burden. Mol Cell Endocrinol. 2017;457:81-8. doi: 10.1016/j. mce.2016.12.019 Chahal HS, Chapple JP, Frohman LA, Grossman AB, Korbonits M. Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). Trends Endocrinol Metab. 2010;21(7):419-27. doi: 10.1016/j.tem.2010.02.007 Formosa R, Xuereb-Anastasi A, Vassallo J. Aip regulates cAMP signalling and GH secretion in GH3 cells. Endocr Relat Cancer. 2013;20(4):495-505. doi: 10.1530/ERC-13-0043 Raitila A, Lehtonen HJ, Arola J, Heliövaara E, Ahlsten M, Georgitsi M, et al. Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression. Am J Pathol. 2010;177(4):1969-76. doi: 10.2353/ajpath.2010.100138 Goldfarb SB, Kashlan OB, Watkins JN, Suaud L, Yan W, Kleyman TR, et al. Differential effects of Hsc70 and Hsp70 on the intracellular trafficking and functional expression of epithelial sodium channels. Proc Natl Acad Sci U S A. 2006;103(15):5817-22. doi: 10.1073/pnas.0507903103 Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, et al. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat. 2010;31(8):950-60. doi: 10.1002/humu.21292 Barlier A, Vanbellinghen JF, Daly AF, Silvy M, Jaffrain-Rea ML, Trouillas J, et al. Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab. 2007;92(5):1952-5. doi: 10.1210/jc.2006-2702 Formosa R, Vassallo J. Aryl Hydrocarbon Receptor-Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function. Horm Cancer. 2017;8(3):174-84. doi: 10.1007/s12672-017-0288-3 Rostomyan L, Potorac I, Beckers P, Daly AF, Beckers A. AIP mutations and gigantism. Ann Endocrinol (Paris). 2017;78(2):123- 30. doi: 10.1016/j.ando.2017.04.012 Korbonits M, Storr H, Kumar AV. Familial pituitary adenomas - who should be tested for AIP mutations? Clin Endocrinol (Oxf). 2012;77(3):351-6. doi: 10.1111/j.1365-2265.2012.04445.x Iwata T, Yamada S, Mizusawa N, Golam HM, Sano T, Yoshimoto K. The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. Clin Endocrinol (Oxf). 2007;66(4):499-502. doi: 10.1111/j.1365-2265.2007.02758.x Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, et al. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol. 2011;165(4):509-15. doi: 10.1530/EJE-11-0304 Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, et al. Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab. 2007;92(5):1891- 6. doi: 10.1210/jc.2006-2513 Gadelha MR, Kasuki L, Korbonits M. The genetic background of acromegaly. Pituitary. 2017;20(1):10-21. doi: 10.1007/s11102-017- 0789-7 Kasuki Jomori de Pinho L, Vieira Neto L, Armondi Wildemberg LE, Gasparetto EL, Marcondes J, de Almeida Nunes B, et al. Low aryl hydrocarbon receptor-interacting protein expression is a better marker of invasiveness in somatotropinomas than Ki-67 and p53. Neuroendocrinology. 2011;94(1):39-48. doi: 10.1159/000322787 Oriola J, Lucas T, Halperin I, Mora M, Perales MJ, Alvarez-Escolá C, et al. Germline mutations of AIP gene in somatotropinomas resistant to somatostatin analogues. Eur J Endocrinol. 2013;168(1):9-13. doi: 10.1530/EJE-12-0457 Ibáñez-Costa A, Korbonits M. AIP and the somatostatin system in pituitary tumours. J Endocrinol. 2017;235(3):R101-R16. doi: 10.1530/JOE-17-0254 Chahal HS, Trivellin G, Leontiou CA, Alband N, Fowkes RC, Tahir A, et al. Somatostatin analogs modulate AIP in somatotroph adenomas: the role of the ZAC1 pathway. J Clin Endocrinol Metab. 2012;97(8):E1411-20. doi: 10.1210/jc.2012-1111 Tong A, Jiang J, Wang F, Li C, Zhang Y, Wu X. Pure androgen- producing adrenal tumor: clinical features and pathogenesis. Endocr Pract. 2017;23(4):399-407. doi: 10.4158/EP161580.OR Georgitsi M, Karhu A, Winqvist R, Visakorpi T, Waltering K, Vahteristo P, et al. Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. Br J Cancer. 2007;96(2):352-6. doi: 10.1038/sj.bjc.6603573 Raitila A, Georgitsi M, Karhu A, Tuppurainen K, Mäkinen MJ, Birkenkamp-Demtröder K, et al. No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia. Endocr Relat Cancer. 2007;14(3):901-6. doi: 10.1677/ERC-07-0025 Raitila A, Georgitsi M, Bonora E, Vargiolu M, Tuppurainen K, Mäkinen MJ, et al. Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. J Endocrinol Invest. 2009;32(5):426-9. doi: 10.1007/BF03346480 Magnusson L, Hansen N, Saba KH, Nilsson J, Fioretos T, Rissler P, et al. Loss of the tumour suppressor gene AIP mediates the browning of human brown fat tumours. J Pathol. 2017;243(2):160- 4. doi: 10.1002/path.4945 Pardi E, Marcocci C, Borsari S, Saponaro F, Torregrossa L, Tancredi M, et al. Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas. J Clin Endocrinol Metab. 2013;98(7):2800-10. doi: 10.1210/jc.2012-4029
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spelling	Florez Romero , Andresb33be62da91dc8d08978b15ee2a2e4a4300Rojas , Williamc1d10fe4923393188d8d69f64877a441Reverend L. , Carlos6770d640e54caa448ab5e031cbe129f0300Torres , Lilian9fe3ae5f0a66cf517714e8044c501ce1Quintero , Gloria2507f4a0a4e0bb5e9c2f0e4972d118a22021-04-07 14:55:282022-06-29T19:37:38Z2021-04-072021-04-07 14:55:282022-06-29T19:37:38ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la SaludRevista Repertorio de Medicina y Cirugía - 2021info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/888proteína moduladora de la actividad del receptor de aril hidrocarburosneoplasias hipofisariasenfermedades de la hipófisisacromegaliagigantismoaryl hydrocarbon receptor interacting proteinpituitary neoplasiapituitary diseasesacromegalygigantismProteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínicoAryl hydrocarbon receptor interacting protein (AIP): genetics, biochemistry and clinical impactapplication/pdftext/htmlapplication/epub+ziptext/xmlaudio/mpegArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_dcae04bchttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/redcol/resource_type/ARTREVhttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.01217273.8880121-7372https://repositorio.fucsalud.edu.co/handle/001/28982462-991Xhttps://doi.org/10.31260/RepertMedCir.01217273.888spaVierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006;312(5777):1228-30. doi: 10.1126/science.1126100Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain- Rea ML, Barlier A, et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab. 2010;95(11):E373-83. doi: 10.1210/jc.2009-2556Beckers A, Aaltonen LA, Daly AF, Karhu A. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev. 2013;34(2):239-77. doi: 10.1210/er.2012-1013AIP Gene (Protein Coding). Aryl Hydrocarbon Receptor Interacting Protein [Internet]. The GeneCards human gene database; [citado 2019 enero]; Recuperado de: https://www.genecards.org/cgi-bin/ carddisp.pl?gene=AIP.Exon Structure for AIP [Internet]. GeneLoc Genome Locator; [citado 2019 enero]; Recuperado de: https://genecards.weizmann. ac.il/geneloc-bin/exon_struct.pl?disp_name=AIP&chr_nr=11)..Gadelha MR, Trivellin G, Hernández Ramírez LC, Korbonits M. Genetics of pituitary adenomas. Front Horm Res. 2013;41:111-40. doi: 10.1159/000345673Hernández-Ramírez LC, Martucci F, Morgan RM, Trivellin G, Tilley D, Ramos-Guajardo N, et al. Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations. J Clin Endocrinol Metab. 2016;101(8):3144-54. doi: 10.1210/jc.2016- 1307Lecoq AL, Viengchareun S, Hage M, Bouligand J, Young J, Boutron A, et al. AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells. Endocr Relat Cancer. 2016;23(5):433-43. doi: 10.1530/ERC-16-0041Tuominen I, Heliövaara E, Raitila A, Rautiainen MR, Mehine M, Katainen R, et al. AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling. Oncogene. 2015;34(9):1174-84. doi: 10.1038/onc.2014.50Hernández-Ramírez LC, Trivellin G, Stratakis CA. Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants. Horm Metab Res. 2017;49(4):286-95. doi: 10.1055/s-0043-104700Trivellin G, Korbonits M. AIP and its interacting partners. J Endocrinol. 2011;210(2):137-55. doi: 10.1530/JOE-11-0054Lloyd C, Grossman A. The AIP (aryl hydrocarbon receptor- interacting protein) gene and its relation to the pathogenesis of pituitary adenomas. Endocrine. 2014;46(3):387-96. doi: 10.1007/ s12020-013-0125-6Fajardo-Montañana C, Daly AF, Riesgo-Suárez P, Gómez-Vela J, Tichomirowa MA, Camara-Gómez R, et al. [AIP mutations in familial and sporadic pituitary adenomas: local experience and review of the literature]. Endocrinol Nutr. 2009;56(7):369-77. doi: 10.1016/S1575-0922(09)72456-8Cannavo S, Trimarchi F, Ferraù F. Acromegaly, genetic variants of the aryl hydrocarbon receptor pathway and environmental burden. Mol Cell Endocrinol. 2017;457:81-8. doi: 10.1016/j. mce.2016.12.019Chahal HS, Chapple JP, Frohman LA, Grossman AB, Korbonits M. Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). Trends Endocrinol Metab. 2010;21(7):419-27. doi: 10.1016/j.tem.2010.02.007Formosa R, Xuereb-Anastasi A, Vassallo J. Aip regulates cAMP signalling and GH secretion in GH3 cells. Endocr Relat Cancer. 2013;20(4):495-505. doi: 10.1530/ERC-13-0043Raitila A, Lehtonen HJ, Arola J, Heliövaara E, Ahlsten M, Georgitsi M, et al. Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression. Am J Pathol. 2010;177(4):1969-76. doi: 10.2353/ajpath.2010.100138Goldfarb SB, Kashlan OB, Watkins JN, Suaud L, Yan W, Kleyman TR, et al. Differential effects of Hsc70 and Hsp70 on the intracellular trafficking and functional expression of epithelial sodium channels. Proc Natl Acad Sci U S A. 2006;103(15):5817-22. doi: 10.1073/pnas.0507903103Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, et al. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat. 2010;31(8):950-60. doi: 10.1002/humu.21292Barlier A, Vanbellinghen JF, Daly AF, Silvy M, Jaffrain-Rea ML, Trouillas J, et al. Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab. 2007;92(5):1952-5. doi: 10.1210/jc.2006-2702Formosa R, Vassallo J. Aryl Hydrocarbon Receptor-Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function. Horm Cancer. 2017;8(3):174-84. doi: 10.1007/s12672-017-0288-3Rostomyan L, Potorac I, Beckers P, Daly AF, Beckers A. AIP mutations and gigantism. Ann Endocrinol (Paris). 2017;78(2):123- 30. doi: 10.1016/j.ando.2017.04.012Korbonits M, Storr H, Kumar AV. Familial pituitary adenomas - who should be tested for AIP mutations? Clin Endocrinol (Oxf). 2012;77(3):351-6. doi: 10.1111/j.1365-2265.2012.04445.xIwata T, Yamada S, Mizusawa N, Golam HM, Sano T, Yoshimoto K. The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. Clin Endocrinol (Oxf). 2007;66(4):499-502. doi: 10.1111/j.1365-2265.2007.02758.xTichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, et al. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol. 2011;165(4):509-15. doi: 10.1530/EJE-11-0304Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, et al. 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J Clin Endocrinol Metab. 2013;98(7):2800-10. doi: 10.1210/jc.2012-4029https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/888/1188https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/888/1434https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/888/2005https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/888/1476https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/888/1454Núm. 1 , Año 2021 : Enero - Abril2111330Revista Repertorio de Medicina y CirugíaPublicationOREORE.xmltext/xml2939https://repositorio.fucsalud.edu.co/bitstreams/db983b01-1de4-4958-8f41-e4a3467269d9/downloaddee42585734170e6e362b1a67baad71bMD51001/2898oai:repositorio.fucsalud.edu.co:001/28982024-02-02 13:10:54.891https://creativecommons.org/licenses/by-nc-sa/4.0/Revista Repertorio de Medicina y Cirugía - 2021metadata.onlyhttps://repositorio.fucsalud.edu.coRepositorio Digital de la Fundación Universitaria de Ciencias de la Saludredi@fucsalud.edu.co

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