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achondroplasia相关文献:
Achondroplasia: a comprehensive clinical review.
Pauli RM.
Orphanet J Rare Dis. 2019 Jan 3;14(1):1. doi: 10.1186/s13023-018-0972-6.
PMID:30606190
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.
An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5.
PMID:36347803
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L.
Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2.
PMID:27987249
Health Supervision for People With Achondroplasia.
Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS.
Pediatrics. 2020 Jun;145(6):e20201010. doi: 10.1542/peds.2020-1010.
PMID:32457214
Novel therapeutic approaches for the treatment of achondroplasia.
Legeai-Mallet L, Savarirayan R.
Bone. 2020 Dec;141:115579. doi: 10.1016/j.bone.2020.115579. Epub 2020 Aug 11.
PMID:32795681
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO.
Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26.
PMID:34837063
New treatments for children with achondroplasia.
Savarirayan R, Hoover-Fong J, Yap P, Fredwall SO.
Lancet Child Adolesc Health. 2024 Apr;8(4):301-310. doi: 10.1016/S2352-4642(23)00310-3.
PMID:38485412
Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review.
Wrobel W, Pach E, Ben-Skowronek I.
Int J Mol Sci. 2021 May 25;22(11):5573. doi: 10.3390/ijms22115573.
PMID:34070375
Neurological Manifestations of Achondroplasia.
Bodensteiner JB.
Curr Neurol Neurosci Rep. 2019 Nov 28;19(12):105. doi: 10.1007/s11910-019-1008-x.
PMID:31782047
Achondroplasia.
Pereira E.
Pediatr Rev. 2019 Jun;40(6):316-318. doi: 10.1542/pir.2018-0009.
PMID:31152107
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