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名词信息
中 文 名:
软骨发育不全
英 文 名:
achondroplasia
中文又称:
中文曾称:
名词来源:
所属专业:
新生儿科
所属类别:
疾病诊断名词
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Pubmed相关的文献
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
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
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
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
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
Progress in managing children with achondroplasia.
Taylor-Miller T, Savarirayan R.
Expert Rev Endocrinol Metab. 2024 Nov;19(6):479-486. doi: 10.1080/17446651.2024.2390416. Epub 2024 Aug 12.
PMID:39132812
Achondroplasia.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M.
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008.
PMID:18328977
Achondroplasia.
Pereira E.
Pediatr Rev. 2019 Jun;40(6):316-318. doi: 10.1542/pir.2018-0009.
PMID:31152107
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