[1]
|
商春阳, 陈春雷, 贾敦茂, 乔海泉. 戈谢病治疗方式研究进展[J]. 中华普通外科杂志, 2018, 33(5): 442-444.
|
[2]
|
吴小英, 甘川, 许红梅, 张祯祯. 不同类型戈谢病患儿感染风险差异分析[J]. 中国循证儿科杂志, 2021, 16(2): 152-155.
|
[3]
|
Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., et al. (2016) Management Goals for Type 1 Gaucher Disease: An Expert Consensus Document from the European Working Group on Gaucher Disease. Blood Cells, Molecules, and Diseases, 68, 203-208. https://doi.org/10.1016/j.bcmd.2016.10.008
|
[4]
|
Belmatoug, N., Di Rocco, M., Fraga, C., Giraldo, P., Hughes, D., Lukina, E., et al. (2017) Management and Monitoring Recommendations for the Use of Eliglustat in Adults with Type 1 Gaucher Disease in Europe. European Journal of Internal Medicine, 37, 25-32. https://doi.org/10.1016/j.ejim.2016.07.011
|
[5]
|
Clarke, L.A. and Hollak, C.E.M. (2015) The Clinical Spectrum and Pathophysiology of Skeletal Complications in Lysosomal Storage Disorders. Best Practice & Research Clinical Endocrinology & Metabolism, 29, 219-235.
https://doi.org/10.1016/j.beem.2014.08.010
|
[6]
|
Durnas, B., Watek, M., Wollny, T., Niemirowicz, K., Marzec, M., Bucki, R., et al. (2016) Utility of Blood Procalcitonin Concentration in the Management of Cancer Patients with Infections. OncoTargets and Therapy, 9, 469-475.
https://doi.org/10.2147/OTT.S95600
|
[7]
|
Mistry, P.K., Taddei, T., vom Dahl, S. and Rosenbloom, B.E. (2013) Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism. Critical Re-views™ in Oncogenesis, 18, 235-246.
https://doi.org/10.1615/CritRevOncog.2013006145
|
[8]
|
Pandey, M.K. and Grabowski, G.A. (2013) Immuno-logical Cells and Functions in Gaucherdisease. Critical Reviews™ in Oncogenesis, 18, 197-220. https://doi.org/10.1615/CritRevOncog.2013004503
|
[9]
|
Arends, M., van Dussen, L., Biegstraaten, M. and Hollak, C.E.M. (2013) Malignancies and Monoclonal Gammopathy in Gaucher Disease; A Systematic Review of the Literature. British Journal of Haematology, 161, 832-842.
https://doi.org/10.1111/bjh.12335
|
[10]
|
Nair, S., Branagan, A.R., Liu, J., Boddupalli, C.S., Mistry, P.K. and Dhodapkar, M.V. (2016) Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. New England Journal of Medicine, 374, 555-561.
https://doi.org/10.1056/NEJMoa1508808
|
[11]
|
Kyle, R.A., Larson, D.R., Therneau, T.M., Dispenzieri, A., Kumar, S., et al. (2018) Long-Term Follow-Up of Monoclonal Gammopathy of Undetermined Significance. New England Journal of Medicine, 378, 241-249.
https://doi.org/10.1056/NEJMoa1709974
|
[12]
|
Masi, L. and Brandi, M.L. (2015) Gaucher Disease: The Role of the Specialist on Metabolic Bone Diseases. Clinical Cases in Mineral and Bone Metabolism, 12, 165-169. https://doi.org/10.11138/ccmbm/2015.12.2.165
|
[13]
|
Jeon, O.H., Panicker, L.M., Lu, Q., Chae, J.J., Feldman, R.A. and Elisseeff, J.H. (2016) Human iPSC-Derived Osteoblasts and Osteoclasts Together Promote Bone Regeneration in 3D Biomaterials. Scientific Reports, 6, Article No. 26761.
https://doi.org/10.1038/srep26761
|
[14]
|
Srivastava, R.K., Dar, H.Y. and Mishra, P.K. (2018) Immunoporosis: Immunology of Osteoporosis-Role of T Cells. Frontiers in Immunology, 9, Article No. 657. https://doi.org/10.3389/fimmu.2018.00657
|
[15]
|
Ponzetti, M. and Rucci, N. (2019) Updates on Osteoimmunology: What’s New on the Cross-Talk between Bone and Immune System. Frontiers in Endocrinology, 10, Article No. 236. https://doi.org/10.3389/fendo.2019.00236
|
[16]
|
Yang, A.C., Bier, L., Overbey, J.R., Cohen-Pfeffer, J., Desai, K., Desnick, R.J., et al. (2017) Early Manifestations of Type 1 Gaucher Disease in Presymptomatic Children Diagnosed after Parental Carrier Screening. Genetics in Medicine, 19, 652-658. https://doi.org/10.1038/gim.2016.159
|
[17]
|
Khan, A., Hangartner, T., Weinreb, N.J., Taylor, J.S. and Mistry, P.K. (2012) Risk Factors for Fractures and Avascular Osteonecrosis in Type 1 Gaucher Disease: A Study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal of Bone and Mineral Research, 27, 1839-1848. https://doi.org/10.1002/jbmr.1680
|
[18]
|
Kallish, S. and Kaplan, P. (2013) A Disease Severity Scoring System for Children with Type 1 Gaucher Disease. European Journal of Pediatrics, 172, 39-43. https://doi.org/10.1007/s00431-012-1830-5
|
[19]
|
Yoshida, S., Kido, J., Matsumoto, S., Momosaki, K., Mitsubuchi, H., Shimazu, T., et al. (2016) Prenatal Diagnosis of Gaucher Disease Using Next-Generation Sequencing. Pediatrics International, 58, 946-949.
https://doi.org/10.1111/ped.13069
|
[20]
|
Fuller, M., Szer, J., Stark, S. and Fletcher, J.M. (2015) Rapid, Sin-gle-Phase Extraction of Glucosylsphingosine from Plasma: A Universal Screening and Monitoring Tool. Clinica Chimica Acta, 450, 6-10.
https://doi.org/10.1016/j.cca.2015.07.026
|
[21]
|
Mirzaian, M., Wisse, P., Ferraz, M.J., Gold, H., Donker-Koopman, W.E., Verhoek, M., et al. (2015) Mass Spectrometric Quantification of Glucosylsphingosine in Plasma and Urine of Type 1 Gaucher Patients Using an Isotope Standard. Blood Cells, Molecules, and Diseases, 54, 307-314. https://doi.org/10.1016/j.bcmd.2015.01.006
|
[22]
|
Murugesan, V., Chuang, W.L., Liu, J., Lischuk, A., Kacena, K., Lin, H., et al. (2016) Glucosylsphingosine Is a Key Biomarker of Gaucher Disease. American Journal of Hematology, 91, 1082-1089. https://doi.org/10.1002/ajh.24491
|