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Page 1
Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement.
Casado E, Gómez-Alonso C, Pintos-Morell G, Bou-Torrent R, Barreda-Bonis AC, Torregrosa JV, Broseta-Monzó JJ, Arango-Sancho P, Chocrón-de-Benzaquen S, Olmedilla-Ishishi Y, Soler-López B. Casado E, et al. Among authors: barreda bonis ac. Orphanet J Rare Dis. 2023 Aug 29;18(1):245. doi: 10.1186/s13023-023-02856-6. Orphanet J Rare Dis. 2023. PMID: 37644568 Free PMC article. Review.
Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Leiva-Gea A, et al. Among authors: barreda bonis ac. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. An Pediatr (Engl Ed). 2022. PMID: 36347803 Free article. Review.
Impact of triple transmembrane regulator therapy on glucose metabolism in cystic fibrosis related diabetes during clinical practice.
Aguilera García I, García Moreno RM, López Plaza B, Barquiel Alcalá B, Vázquez Pérez P, Barreda Bonis AC, Zamarrón de Lucas E, Palma Milla S, Prados Sánchez MC, González Pérez de Villar N. Aguilera García I, et al. Among authors: barreda bonis ac. Diabetes Res Clin Pract. 2024 Oct;216:111839. doi: 10.1016/j.diabres.2024.111839. Epub 2024 Aug 24. Diabetes Res Clin Pract. 2024. PMID: 39187175
Primary adrenal insufficiency: case study IN 5 tertiary hospitals.
Ovejero García MT, Sáez Gallego B, Barreda Bonís AC, Domínguez Riscart J, Garnier Rodríguez MB, Molina Suárez R, Arriba Muñoz A. Ovejero García MT, et al. Among authors: barreda bonis ac. An Pediatr (Engl Ed). 2024 Nov;101(5):303-309. doi: 10.1016/j.anpede.2024.10.008. Epub 2024 Nov 7. An Pediatr (Engl Ed). 2024. PMID: 39510861 Free article.
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, Heath KE. Sentchordi-Montané L, et al. Among authors: barreda bonis ac. Eur J Endocrinol. 2021 Oct 11;185(5):691-705. doi: 10.1530/EJE-21-0557. Eur J Endocrinol. 2021. PMID: 34516402
Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.
García M, Barreda-Bonis AC, Jiménez P, Rabanal I, Ortiz A, Vallespín E, Del Pozo Á, Martínez-San Millán J, González-Casado I, Moreno JC. García M, et al. Among authors: barreda bonis ac. J Endocr Soc. 2018 Nov 23;3(1):119-128. doi: 10.1210/js.2018-00144. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30591955 Free PMC article.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE. Sentchordi-Montané L, et al. Among authors: barreda bonis ac. Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24. Clin Endocrinol (Oxf). 2018. PMID: 29464738 Free article. Review.
Multiple SLC26A2 mutations occurring in a three-generational family.
Barreda-Bonis AC, Barraza-García J, Parrón M, Pastor I, Heath KE, González-Casado I. Barreda-Bonis AC, et al. Eur J Med Genet. 2018 Jan;61(1):24-28. doi: 10.1016/j.ejmg.2017.10.007. Epub 2017 Oct 10. Eur J Med Genet. 2018. PMID: 29024831
13 results