Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)

Background: X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition of the case and the diagnostic confirmation. Our p...

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Autores:: Cárdenas Aguilera, Juan Guillermo
Medina Orjuela, Adriana
Isabel Meza, Adriana
Prieto, Juan Carlos
Zarante Bahamón, Ana María
Cáceres Mosquera, Jimena Adriana
Mejía Gaviria, Natalia
Serrano Gayubo, Ana Katherina
Baquero Rodríguez, Richard
Chacón Acevedo, Kelly
Guerrero Tinoco, Gustavo Adolfo
Uribe Ríos, Alejandro
García Rueda, María Fernanda
Abad Londoño, Verónica
Nossa Almanza, Sergio Alejandro
Aroca Martínez, Gustavo
Román González, Alejandro
Endo Cáceres, Jorge Alberto
Llano Linares, Juan Pablo
Florenzano Valdes, Pablo
Diaz Curiel, Manuel
Vaisbich, María Helena
Zanchetta, María Belén
Guerra Hernández, Norma Elizabeth
Stefano, Eduardo Enrique
Brunetto, Oscar

Tipo de recurso:

Fecha de publicación:: 2023

Institución:: Universidad Simón Bolívar

Repositorio:: Repositorio Digital USB

Idioma:: eng

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dc.title.spa.fl_str_mv	Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
title	Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
spellingShingle	Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX) Rickets Hypophosphatemic Fibroblast Growth Factor-23 Diagnosis Therapeutics Consensus
title_short	Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
title_full	Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
title_fullStr	Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
title_full_unstemmed	Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
title_sort	Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
dc.creator.fl_str_mv	Cárdenas Aguilera, Juan Guillermo Medina Orjuela, Adriana Isabel Meza, Adriana Prieto, Juan Carlos Zarante Bahamón, Ana María Cáceres Mosquera, Jimena Adriana Mejía Gaviria, Natalia Serrano Gayubo, Ana Katherina Baquero Rodríguez, Richard Chacón Acevedo, Kelly Guerrero Tinoco, Gustavo Adolfo Uribe Ríos, Alejandro García Rueda, María Fernanda Abad Londoño, Verónica Nossa Almanza, Sergio Alejandro Aroca Martínez, Gustavo Román González, Alejandro Endo Cáceres, Jorge Alberto Llano Linares, Juan Pablo Florenzano Valdes, Pablo Diaz Curiel, Manuel Vaisbich, María Helena Zanchetta, María Belén Guerra Hernández, Norma Elizabeth Stefano, Eduardo Enrique Brunetto, Oscar
dc.contributor.author.none.fl_str_mv	Cárdenas Aguilera, Juan Guillermo Medina Orjuela, Adriana Isabel Meza, Adriana Prieto, Juan Carlos Zarante Bahamón, Ana María Cáceres Mosquera, Jimena Adriana Mejía Gaviria, Natalia Serrano Gayubo, Ana Katherina Baquero Rodríguez, Richard Chacón Acevedo, Kelly Guerrero Tinoco, Gustavo Adolfo Uribe Ríos, Alejandro García Rueda, María Fernanda Abad Londoño, Verónica Nossa Almanza, Sergio Alejandro Aroca Martínez, Gustavo Román González, Alejandro Endo Cáceres, Jorge Alberto Llano Linares, Juan Pablo Florenzano Valdes, Pablo Diaz Curiel, Manuel Vaisbich, María Helena Zanchetta, María Belén Guerra Hernández, Norma Elizabeth Stefano, Eduardo Enrique Brunetto, Oscar
dc.subject.eng.fl_str_mv	Rickets Hypophosphatemic Fibroblast Growth Factor-23 Diagnosis Therapeutics Consensus
topic	Rickets Hypophosphatemic Fibroblast Growth Factor-23 Diagnosis Therapeutics Consensus
description	Background: X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition of the case and the diagnostic confirmation. Our propose was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR. Results: After the screening and selection process for 1041 documents, 38 were included to answer the questions raised by the developer group. 97 recommendations about the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR were approved by the experts consulted through modified Delphi consensus. The quality of the evidence was low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up and help clarify the burden of disease and improve health outcomes for this population.
publishDate	2023
dc.date.accessioned.none.fl_str_mv	2023-04-17T17:00:51Z
dc.date.available.none.fl_str_mv	2023-04-17T17:00:51Z
dc.date.issued.none.fl_str_mv	2023
dc.type.coar.fl_str_mv	http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.driver.spa.fl_str_mv	info:eu-repo/semantics/article
dc.type.spa.spa.fl_str_mv	Artículo científico
dc.identifier.issn.none.fl_str_mv	26935015
dc.identifier.uri.none.fl_str_mv	https://hdl.handle.net/20.500.12442/12237
dc.identifier.doi.none.fl_str_mv	https://doi.org/10.21203/rs.3.rs-2228921/v1
dc.identifier.url.eng.fl_str_mv	https://assets.researchsquare.com/files/rs-2228921/v1/c72b7656-5952-4714-82d0-0c552211d955.pdf?c=1681238143
identifier_str_mv	26935015
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dc.language.iso.eng.fl_str_mv	eng
language	eng
dc.rights.*.fl_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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dc.rights.accessrights.spa.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nc-nd/4.0/ http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv	openAccess
dc.format.mimetype.spa.fl_str_mv	pdf
dc.publisher.eng.fl_str_mv	Research Square Company
dc.source.eng.fl_str_mv	Research square
dc.source.none.fl_str_mv	Vol XX, No X, (2023)
institution	Universidad Simón Bolívar
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spelling	Cárdenas Aguilera, Juan Guillermod3b7b234-b8bb-414c-b649-34a35a851220Medina Orjuela, Adriana66f7bdfa-39d6-4ffd-92d9-d7c53a7ece9dIsabel Meza, Adriana5b4ac9c2-fc00-47af-8011-d6f14c217584Prieto, Juan Carlosa027f96d-6634-4863-b0b4-a7ce44cb9379Zarante Bahamón, Ana Maríac0b02e5b-4214-4ef1-a1ac-270df3f3087eCáceres Mosquera, Jimena Adriana212f8c23-0bb8-45b1-880d-8248f541dbf9Mejía Gaviria, Natalia826fc9a1-c7f1-47d5-918a-47739b8c1509Serrano Gayubo, Ana Katherina575b0c52-32b7-497d-88d6-ffa8e6ccac4fBaquero Rodríguez, Richard00aa0cbd-2f84-4b99-b8ce-26cc51cda65dChacón Acevedo, Kelly9181126f-aa6e-4a3e-9f6f-b24bd35c55a6Guerrero Tinoco, Gustavo Adolfo89b9a707-902a-44bf-9349-fc910d3e3959Uribe Ríos, Alejandroaa65403f-7933-4e1c-bff0-5393e458f8ebGarcía Rueda, María Fernanda5ac5e6b7-c04d-49b4-b57b-8d88e6a97d47Abad Londoño, Verónica2f8bc165-20ee-4aca-93d0-00a379ea4201Nossa Almanza, Sergio Alejandrobef16d6d-b4e7-45e2-aa1e-82e9fc641bcdAroca Martínez, Gustavod6bf7d66-bf9b-492a-be14-677f6ecdad05Román González, Alejandroa335b2e1-0314-4b10-9474-218fa3070eebEndo Cáceres, Jorge Alberto11fe1ba4-cda9-4c1b-bdbf-04aa3f6bc5f7Llano Linares, Juan Pablob64b7a3c-9749-4999-9fb9-8114fb08aa63Florenzano Valdes, Pablo3fbabc6e-3540-432f-9adb-308eea3a94b5Diaz Curiel, Manuel4d6968f9-8763-42f4-a14e-42f097c656d5Vaisbich, María Helena3d811f22-2a8f-433d-a69b-0e4e75e39cc3Zanchetta, María Belén2f1c791b-891e-4836-9bda-432fd549fefcGuerra Hernández, Norma Elizabeth1fc1cd01-ff6b-435f-92e9-4f71d4f879ceStefano, Eduardo Enrique9eeecf37-a615-4985-9e0e-d122aaa80e32Brunetto, Oscar4facd002-00c1-4b42-b6e0-5c148b08b31e2023-04-17T17:00:51Z2023-04-17T17:00:51Z202326935015https://hdl.handle.net/20.500.12442/12237https://doi.org/10.21203/rs.3.rs-2228921/v1https://assets.researchsquare.com/files/rs-2228921/v1/c72b7656-5952-4714-82d0-0c552211d955.pdf?c=1681238143Background: X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition of the case and the diagnostic confirmation. Our propose was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR. Results: After the screening and selection process for 1041 documents, 38 were included to answer the questions raised by the developer group. 97 recommendations about the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR were approved by the experts consulted through modified Delphi consensus. The quality of the evidence was low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up and help clarify the burden of disease and improve health outcomes for this population.pdfengResearch Square CompanyAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Research squareVol XX, No X, (2023)RicketsHypophosphatemicFibroblast Growth Factor-23DiagnosisTherapeuticsConsensusConsenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)info:eu-repo/semantics/articleArtículo científicohttp://purl.org/coar/resource_type/c_2df8fbb1Giannini S, Bianchi ML, Rendina D, Massoletti P, Lazzerini D, Brandi ML. Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review. Osteoporos Int. 2021;32(10):1937–49.Huertas-Quintero JA, Losada-Trujillo N, Cuellar-Ortiz DA, Velasco-Parra HM. Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018. Lancet Reg Heal - Am. 2022;7:100131.Dahir K, Roberts MS, Krolczyk S, Simmons JH. X-linked hypophosphatemia: A new era in management. J Endocr Soc. 2020;4(12):1–15.Whyte MP, Schranck FW, Armamento-Villareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab. 1996 Nov 1;81(11):4075–80.Yuan B, Takaiwa M, Clemens TL, Feng JQ, Kumar R, Rowe PS, et al. Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. J Clin Invest. 2008 Feb 1;118(2):722– 34.Ho BB, Bergwitz C. FGF23 signalling and physiology. J Mol Endocrinol. 2021;66(2):R23–32.Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15(7):435–55.Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, et al. Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium. Front Endocrinol (Lausanne). 2021;12(March):1–20.Padidela R, Cheung MS, Saraff V, Dharmaraj P. Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations. Endocr Connect. 2020;9(10):1051–6.Al Juraibah F, Al Amiri E, Al Dubayee M, Al Jubeh J, Al Kandari H, Al Sagheir A, et al. Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries. Arch Osteoporos. 2021;16(1).Lin X, Li S, Zhang Z, Yue H. Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia. Vol. 9, Frontiers in Cell and Developmental Biology. 2021. p. 1177.Smith PS, Gottesman GS, Zhang F, Cook F, Ramirez B, Wenkert D, et al. X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.* 231A > G (A Retrospective Case–Control Study). J Bone Miner Res. 2020;35(5):920–31.Lempicki M, Rothenbuhler A, Merzoug V, Franchi-Abella S, Chaussain C, Adamsbaum C, et al. Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. Horm Res Paediatr. 2017;87(4):244–53.Beck-Nielsen SS, Brixen K, Gram J, Mølgaard C. High bone mineral apparent density in children with Xlinked hypophosphatemia. Osteoporos Int. 2013;24(8):2215–21.Imel EA, White KE. Pharmacological management of X-linked hypophosphataemia. Br J Clin Pharmacol. 2019;85(6):1188–98.Živičnjak M, Schnabel D, Billing H, Staude H, Filler G, Querfeld U, et al. Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2011;26(2):223–31.Seefried L, Smyth M, Keen R, Harvengt P. Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review. Osteoporos Int. 2021;32(1):7–22.Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016;174(2):125–36.Kubota T, Kitaoka T, Miura K, Fujiwara M, Ohata Y, Miyoshi Y, et al. Serum fibroblast growth factor 23 is a useful marker to distinguish vitamin d-deficient rickets from hypophosphatemic rickets. Horm Res Paediatr. 2014;81(4):251–7.Ingraham SE, Patel HP. Evaluation of Renal Function in the Pediatric Patient. In: Clinician’s Manual Of Pediatric Nephrology. World Scientific; 2011. pp. 20–36.Colantonio DA, Kyriakopoulou L, Chan MK, Daly CH, Brinc D, Venner AA, et al. Closing the gaps in pediatric laboratory reference intervals: a CALIPER database of 40 biochemical markers in a healthy and multiethnic population of children. Clin Chem. 2012;58(5):854–68.Ruppe MD. X-Linked Hypophosphatemia. GeneReviews. 2017.Tosur M. Modified nomogram for derivation of renal threshold phosphate concentration. Int Urol Nephrol. 2017;49(7):1309–10.Lim R, Shailam R, Hulett R, Skrinar A, Nixon A, Williams A, et al. Validation of the Radiographic Global Impression of Change (RGI-C) score to assess healing of rickets in pediatric X-linked hypophosphatemia (XLH). Bone. 2021;148(April):115964.Thacher TD, Fischer PR, Pettifor JM, Lawson JO, Manaster BJ, Reading JC. Radiographic Scoring Method for the Assessment of the Severity of Nutritional Rickets. J Trop Pediatr. 2000;46(June).Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, et al. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone. 2019;122(January):76–81.Beck-Nielsen SS, Brixen K, Gram J, Mølgaard C. High bone mineral apparent density in children with Xlinked hypophosphatemia. Osteoporos Int. 2013;24(8):2215–21.Quinlan C, Guegan K, Offiah A, Neill RO, Hiorns MP, Ellard S, et al. Growth in PHEX-associated X-linked hypophosphatemic rickets: The importance of early treatment. Pediatr Nephrol. 2012;27(4):581–8.Linglart A, Biosse-Duplan M, Briot K, Chaussain C, Esterle L, Guillaume-Czitrom S, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13–30.Sharkey MS, Grunseich K, Carpenter TO. Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. J Am Acad Orthop Surg. 2015;23(7):433–42.Carpenter TO, Imel EA, Holm IA, Jan de Beur S, Insogna KL. A CLINICIAN’S GUIDE TO X-LINKED HYPOPHOSPHATEMIA. J Bone Min Res. 2011;26(7):1381–8.Lecoq AL, Brandi ML, Linglart A, Kamenický P. Management of X-linked hypophosphatemia in adults. Metabolism. 2020;103:154049.Lamb YN. Burosumab: First Global Approval. Drugs. 2018;78(6):707–14.CADTH. Pharmacoeconomic Review Report (Resubmission). 2020.Brener A, Lebenthal Y, Cleper R, Kapusta L, Zeitlin L. Body composition and cardiometabolic health of pediatric patients with X-linked hypophosphatemia (XLH) under burosumab therapy. Ther Adv Endocrinol Metab. 2021;12:20420188211001150.Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, et al. A randomized, double-blind, placebo‐controlled, phase 3 trial evaluating the efficacy of burosumab, an anti‐FGF23 antibody, in adults with X‐linked hypophosphatemia: week 24 primary analysis. J Bone Miner Res. 2018;33(8):1383–93.Bacchetta J, Rothenbuhler A, Gueorguieva I, Kamenicky P, Salles J-P, Briot K, et al. X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience. Jt Bone Spine. 2021;88(5):105208.Martín Ramos S, Gil-Calvo M, Roldán V, Castellano Martínez A, Santos F. Positive Response to One-Year Treatment With Burosumab in Pediatric Patients With X-Linked Hypophosphatemia. Front Pediatr. 2020;8(February):1–5.Gizard A, Rothenbuhler A, Pejin Z, Finidori G, Glorion C, de Billy B, et al. Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR). Endocr Connect. 2017;6(8):566–73.Horn A, Wright J, Bockenhauer D, Van’t Hoff W, Eastwood DM. The orthopaedic management of lower limb deformity in hypophosphataemic rickets. J Child Orthop. 2017;11(4):298–305.López-Romero LC, Broseta JJ, Guillén Olmos E, Devesa-Such RJ, Hernández-Jaras J. Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática. Reumatol Clínica. 2021;17(2):116–7.Sanabria AJ, Rigau D, Rotaeche R, Selva A, Marzo-Castillejo M, Alonso-Coello P. Sistema GRADE: metodología para la realización de recomendaciones para la práctica clínica. Atención Primaria. 2015;47(1):48–55.Del Pino M, Viterbo G, Fano V. GAP2017 Manejo de Niños con Raquitismo Hipofosfatémico Familiar. 2017.D’Isa DG, Chilelli C, Tau C, Viterbo G, Rubinstein M, Chaler E. Estimacion del intervalo de referencia de calcio, fosforo y fosfatasa alcalina sericos en poblacion pediatrica utilizando una base de datos por el metodo de Hoffmann modificado. Med Infant. 2016;23(1):8–12.Stéfano E. Tratamiento ortopédico de XLH. 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Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)

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