[1] NalysnykL, Rotella P, Simeone J C, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature[J]. Hematology, 2017, 22(2):65-73. [2] 中华医学会血液学分会红细胞疾病(贫血)学组. 中国成人戈谢病诊治专家共识(2020年版)[J]. 中华医学杂志, 2020, 100(24): 1841-1849. [3] SerratriceC, Cox T M, Leguy-Seguin V, et al. Splenic artery aneurysms, a rare complication of type 1 gaucher disease: report of five cases[J]. J Clin Med, 2019, 8(2): 219. [4] 中华医学会儿科学分会内分泌遗传代谢学组, 中华医学会儿科学分会血液学组, 中华医学会医学遗传学分会, 等. 中国儿童戈谢病诊治专家共识(2021年版)[J]. 中华儿科杂志, 2021, 59(12): 1025-1031. [5] CharrowJ, Esplin J A, Gribble T J, et al. Gaucher disease: recommendations on n diagnosis, evaluation, and monitoring[J]. Arch Intern Med, 1998, 158(16): 1754-1760. [6] 张为民, 邓亮生, 孟岩, 等. 中国人戈谢病基因突变的分析[J]. 中华医学杂志, 2009, 89(48): 3397-3400. [7] 孙晓燕, 薛瑶, 王娅萍, 等. 儿童戈谢病 14 例临床表型与基因型特征分析[J]. 中华儿科杂志, 2022, 60(6): 527-532. [8] CormandB, Grinberg D, Gort L, et al. two new mild homozygous mutations in gaucher disease patients: clinical signs and biochemical analyses[J]. American Journal of Medical Genetics, 1997, 70(4): 437-443. [9] HuX Y, Li N, Xu Y F, et al. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience[J]. Genetics in Medicine, 2017, 20(9): 1045-1053. [10] AnderssonH C, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease[J]. Genet Med, 2005, 7(2): 105-110. [11] PhetthongT, Tim-Aroon T, Khongkraparn A, et al. Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients[J].Orphanet J Rare Dis, 2021, 16(1):519. [12] Lei K, Zhao Y X, Sun L R, et al. A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China[J]. Orphanet J Rare Dis, 2018, 13(1):48. |