Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study [0.03%]
克拉布特里病1型格肖病的米古司他治疗：一项多中心回顾性队列研究的临床及安全结果分析
David J Kuter,Atul Mehta,Carla E M Hollak et al.
David J Kuter et al.
We evaluated clinical and safety outcomes in adult patients with type 1 Gaucher disease receiving miglustat in clinical practice settings. An observational, retrospective cohort study was conducted in centers across the EU and the USA. Medi...
Multicenter Study
Blood cells, molecules & diseases. 2013 Aug;51(2):116-24. DOI:10.1016/j.bcmd.2013.04.005 2013
Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease [0.03%]
表达人葡萄糖脑苷脂酶变异体的转基因小鼠：对于格肖病研究的价值
Angela Sanders,Harmony Hemmelgarn,Heather L Melrose et al.
Angela Sanders et al.
Gaucher disease is an autosomal recessively inherited storage disorder caused by deficiency of the lysosomal hydrolase, acid β-glucosidase. The disease manifestations seen in Gaucher patients are highly heterogeneous as is the responsivene...
Molecular and hematological studies in a large cohort of α(0)-thalassemia in northeast Thailand: data from a single referral center [0.03%]
泰国东北部α(0)地贫大规模队列的分子及血液学研究：单中心数据报告
Attawut Chaibunruang,Simaporn Prommetta,Supawadee Yamsri et al.
Attawut Chaibunruang et al.
α(0)-thalassemia is the most severe form of α-thalassemia alleles found among Southeast Asian and Chinese populations and can cause a fatal condition known as hemoglobin Bart's hydrops fetalis and hemoglobin H disease. In order to provide...
Long-term treatment with deferiprone enhances left ventricular ejection function when compared to deferoxamine in patients with thalassemia major [0.03%]
长期用去铁酮治疗较去铁铵能改善β-地中海贫血患者的心脏功能
Aldo Filosa,Angela Vitrano,Paolo Rigano et al.
Aldo Filosa et al.
Transfusion and iron chelation treatment have significantly reduced morbidity and improved survival of patients with thalassemia major. However, cardiac disease continues to be the most common cause of death. We report the left-ventricular ...
Comparative Study
Blood cells, molecules & diseases. 2013 Aug;51(2):85-8. DOI:10.1016/j.bcmd.2013.04.002 2013
Enhanced erythroid cell differentiation in hypoxic condition is in part contributed by miR-210 [0.03%]
缺氧条件下miR-210促进红系细胞分化作用的研究
Orawan Sarakul,Phantip Vattanaviboon,Yuka Tanaka et al.
Orawan Sarakul et al.
Erythropoiesis, a process of erythroid production, is controlled by several factors including oxygen level. In this study, the effect of oxygen tension on erythropoiesis was investigated in K562 erythroleukemic cell line and erythroid proge...
Association between the genetic polymorphisms of glutathione S-transferase (GSTM1 and GSTT1) and the clinical manifestations in sickle cell anemia [0.03%]
谷胱甘肽S-转移酶(GST M1和GST T1)基因多态性与镰状细胞贫血临床表现关联分析
Romério Alencar de Oliveira Filho,Géssyka Jerônimo Silva,Igor de Farias Domingos et al.
Romério Alencar de Oliveira Filho et al.
The hereditary deficiency of antioxidant enzymes when associated with sickle cell anemia (SCA) further contributes to the oxidation of hemoglobin S, which increases the formation of degradation products of this hemoglobin. The glutathione S...
Deferiprone-induced seizures in a patient with β-thalassemia major [0.03%]
deferiprone诱发的β-地中海贫血患者惊厥病例报告
Naji S Mallat,Ahmad Beydoun,Khaled M Musallam et al.
Naji S Mallat et al.
A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria [0.03%]
急性间歇性卟啉病日本患者的新型G168X突变和常见的730-731delCT突变
Shinji Susa,Makoto Daimon,Takeo Kato et al.
Shinji Susa et al.
Twice daily deferasirox significantly improves clinical efficacy in transfusion dependent thalassaemias who were inadequate responders to standard once daily dose [0.03%]
对于标准每日一次剂量 darasa 疗效不足的输血依赖性地中海贫血患者而言，每日二次剂量的 ferriprox 显著改善了临床疗效
Bunchoo Pongtanakul,Vip Viprakasit
Bunchoo Pongtanakul
Neurotoxicity of the anticoagulant-selective E149A-activated protein C variant after focal ischemic stroke in mice [0.03%]
E149A活化蛋白C变异体在小鼠缺血性脑卒中后的神经毒性作用研究
Yaoming Wang,Ranjeet Kumar Sinha,Laurent O Mosnier et al.
Yaoming Wang et al.
Wild type (WT) activated protein C (APC) and cytoprotective-selective APC variants such as 3K3A-APC (3-fold increased anticoagulant activity but defective cytoprotective activities) to those of the cytoprotective-selective 5A-APC variant (