Molecular and clinical heterogeneity in pyruvate kinase deficiency in India [0.03%]
印度丙酮酸激酶缺乏的分子和临床异质性
Prashant Warang,Prabhakar Kedar,Kanjaksha Ghosh et al.
Prashant Warang et al.
We studied the PK-LR gene in 10 unrelated Indian patients with congenital haemolytic anemia associated with erythrocyte pyruvate kinase deficiency. The patients had a variable presentation ranging from a very mild compensated hemolysis to s...
A novel pattern of uridine diphosphate glucuronosyltransferase polymorphisms associated with hyperbilirubinemia during nilotinib treatment [0.03%]
与尼洛替尼治疗相关高胆红素血症的新型尿苷二磷酸葡萄糖醛酸转移酶多态性模式
Claudio Fozza,Simonetta Pardini,Alessandra Coiana et al.
Claudio Fozza et al.
Tejasvita Gaikwad,Shrimati Shetty,Kanjaksha Ghosh
Tejasvita Gaikwad
A rare case of Moyamoya syndrome in a β-thalassemia major patient [0.03%]
一名重型β地中海贫血患者罕见的 moyamoya 综合征病例报告
Adlette Inati,Oulfat Tourjuman,Diana Bizri et al.
Adlette Inati et al.
End stage renal disease in six patients with beta-thalassemia intermedia [0.03%]
6例中间型β地中海贫血终末期肾病患者临床分析
Naji S Mallat,Khaled M Musallam,Samir G Mallat et al.
Naji S Mallat et al.
Hypoxia influences stem cell-like properties in multidrug resistant K562 leukemic cells [0.03%]
低氧影响多药耐药K562白血病细胞的干细胞样特性
Xue Yan Cui,Grethe Skretting,Ying Jing et al.
Xue Yan Cui et al.
Objectives: The present study investigates the potential role of hypoxia in maintaining stem cell-like properties and therapeutic resistance in K562 leukemic cell. ...
Diabetes impairs mobilization of mouse bone marrow-derived Lin(-)/VEGF-R2(+) progenitor cells [0.03%]
糖尿病损害小鼠骨髓衍生的Lin(-)/VEGF-R2(+))祖细胞的动员
D Barthelmes,M R Irhimeh,M C Gillies et al.
D Barthelmes et al.
Endothelial progenitor cells circulating in the peripheral blood (PB) contribute to vascular repair. This study aimed to evaluate the potential of a 'cocktail' consisting of erythropoietin, granulocyte colony-stimulating factor and tetrahyd...
Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease [0.03%]
Gaucher病患者的单核细胞前体向破骨细胞分化能力增强
M Reed,R J Baker,A B Mehta et al.
M Reed et al.
Gaucher disease (GD) is an autosomal recessive disorder caused by deficiency of β-glucocerebrosidase. Storage of glucosylceramide in reticuloendothelial cells results in multiorgan pathology including bone disease. Established skeletal dis...
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation [0.03%]
一名携带复杂家族性X染色体失活模式的女性患者的X连锁血小板减少症
V Daza-Cajigal,N Martínez-Pomar,A Garcia-Alonso et al.
V Daza-Cajigal et al.
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, eczema and various degrees of immune deficiency caused by mutations in the WAS gene, which encodes the WASP protein, the expression of w...
Distribution of thalassemias and associated hemoglobinopathies identified by prenatal diagnosis in Taiwan [0.03%]
台湾产前筛查出的地中海贫血和相关血红蛋白病的分布状况
Ching-Tien Peng,Su-Ching Liu,Yi-Chin Peng et al.
Ching-Tien Peng et al.
Background: Hemoglobin (Hb) gene disorders are common hereditary disorders in Taiwan, and α- and β-thalassemias are among the well-known Hb disorders here. Our study provides a primary reference for designing a locally ...