Once again, rare diseases provide a spotlight.
作者信息
Lal Tamanna Roshan, Borger Daniel K, Sidransky Ellen
机构信息
Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
出版信息
Mol Genet Metab. 2016 May;118(1):1-2. doi: 10.1016/j.ymgme.2016.03.002. Epub 2016 Mar 5.
Abstract
摘要
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本文引用的文献
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Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma.骨髓瘤起源中针对溶血磷脂的克隆性免疫球蛋白。
N Engl J Med. 2016 Feb 11;374(6):555-61. doi: 10.1056/NEJMoa1508808.
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Gaucher disease and comorbidities: B-cell malignancy and parkinsonism.戈谢病及其合并症：B 细胞恶性肿瘤和帕金森病。
Am J Hematol. 2015 Jul;90 Suppl 1:S25-8. doi: 10.1002/ajh.24057.
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Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.口服依利格鲁司他对1型戈谢病患者脾肿大的影响：ENGAGE随机临床试验
JAMA. 2015 Feb 17;313(7):695-706. doi: 10.1001/jama.2015.459.
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Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation.针对戈谢脂质的II型自然杀伤T滤泡辅助细胞调节B细胞免疫和炎症。
Blood. 2015 Feb 19;125(8):1256-71. doi: 10.1182/blood-2014-09-600270. Epub 2014 Dec 11.
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Glucocerebrosidase is shaking up the synucleinopathies.葡萄糖脑苷脂酶正在颠覆神经核蛋白病领域。
Brain. 2014 May;137(Pt 5):1304-22. doi: 10.1093/brain/awu002. Epub 2014 Feb 14.
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Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.戈谢氏病中的恶性肿瘤和单克隆丙种球蛋白病；文献系统综述。
Br J Haematol. 2013 Jun;161(6):832-42. doi: 10.1111/bjh.12335. Epub 2013 Apr 18.
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Gaucher disease and myeloma.戈谢病与骨髓瘤。
Crit Rev Oncog. 2013;18(3):247-68. doi: 10.1615/critrevoncog.2013006061.
8
Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher Disease who were never treated with enzyme replacement therapy.57例从未接受过酶替代疗法的1型戈谢病美国患者中因血液系统和非血液系统癌症导致的死亡原因。
Crit Rev Oncog. 2013;18(3):177-95. doi: 10.1615/critrevoncog.2013005921.
9
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.戈谢氏病患者血浆葡萄糖基神经酰胺升高与其表型、贮积细胞标志物和治疗反应的关系。
Blood. 2011 Oct 20;118(16):e118-27. doi: 10.1182/blood-2011-05-352971. Epub 2011 Aug 25.
10
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.帕金森病中葡萄糖脑苷脂酶突变的多中心分析。
N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.
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