[A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of the UBE2A gene: a case report and literature review] [0.03%]
纳西门托型X-连锁智力发育障碍性综合征一例及相关文献复习
Dan Xu,Jia-Yang Xie,Xiao-Li Zhang et al.
Dan Xu et al.
This article reports the clinical features and gene mutation types of a large family with Nascimento form of syndromic X-linked intellectual developmental disorder (MRXSN), involving 9 individuals across 3 generations, and a literature revi...
[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review] [0.03%]
19p13.3微缺失所致卡尼-费里奧斯-坎圖综合征1例报告及文献复习
Cui-Yun Li,Ying Xu,Ru-En Yao et al.
Cui-Yun Li et al.
This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor developm...
[Sequential therapy with carglumic acid in three cases of organic acidemia crisis] [0.03%]
[鸟氨酸琥珀酸转氨酶缺陷症急性期后的卡左糖酸序贯治疗3例报告]
Yan-Yan Chen,Ting-Ting Cheng,Jie Yao et al.
Yan-Yan Chen et al.
Case 1: A 19-day-old male infant presented with poor feeding and decreased activity for 2 weeks, worsening with poor responsiveness for 3 days. At 5 days old, he developed poor feeding and poor responsiveness, was hospitalized, and was foun...
[Role and mechanism of copper overload-mediated endoplasmic reticulum stress in vascular endothelial injury in Kawasaki disease] [0.03%]
铜超载介导的内质网应激在川崎病血管内皮损伤中的作用及机制研究
Shi-Fang Wen,Zhi-Yuan Tang,Xian-Juan Shen et al.
Shi-Fang Wen et al.
Objectives: To investigate the role and mechanism of copper overload-mediated endoplasmic reticulum stress (ERS) in vascular endothelial injury in Kawasaki disease (KD). ...
[Risk factors and construction of a risk prediction model for readmission due to hyperbilirubinemia in neonates with ABO hemolytic disease of the newborn] [0.03%]
新生儿ABO溶血病高胆红素血症再入院的风险因素及预测模型构建
Pei-Xian Yue,Hong-Ling Cao,Rong Li
Pei-Xian Yue
Objectives: To investigate the readmission rate and risk factors for readmission due to hyperbilirubinemia in neonates with ABO hemolytic disease of the newborn (ABO-HDN), and to construct a risk prediction model for read...
[Clinical features and prognosis of children with influenza-associated encephalopathy: an analysis of 23 cases] [0.03%]
流感相关性脑病患儿的临床特征与预后分析(23例报告)
Dan Wang,Hu Guo,Chun-Feng Wu et al.
Dan Wang et al.
Objectives: To study the clinical and imaging features of children with influenza-associated encephalopathy (IAE), and to investigate the influencing factors for prognosis. ...
[Clinical application of single-balloon and double-balloon enteroscopy in pediatric small bowel diseases: a retrospective study of 576 cases] [0.03%]
单气囊和双气囊小肠镜在小儿小肠疾病中的临床应用价值回顾分析(576例)
Can-Lin Li,Jie-Yu You,Yan-Hong Luo et al.
Can-Lin Li et al.
Objectives: To evaluate the effectiveness of single-balloon and double-balloon enteroscopy in diagnosing pediatric small bowel diseases and assess the diagnostic efficacy of computed tomography enterography (CTE) for smal...
[Quality of life and its influencing factors in children and adolescents with type 1 diabetes in Xinjiang] [0.03%]
新疆儿童和青少年1型糖尿病患者生活质量及其影响因素分析
Rui-Ling Lei,Muzhapaer Maimaitiabudula,Yan Ma et al.
Rui-Ling Lei et al.
Objectives: To investigate the current status and influencing factors of quality of life in children and adolescents with type 1 diabetes (T1DM) in Xinjiang. ...
[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases] [0.03%]
中国甘肃省苯酮尿症的遗传特征及干预策略分析(1 159例报告)
Chuan Zhang,Pei Zhang,Bing-Bo Zhou et al.
Chuan Zhang et al.
Objectives: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies. ...
[Effects of MTHFR and GGH gene polymorphisms on plasma concentrations and toxicity following high-dose methotrexate therapy in children with acute lymphoblastic leukemia] [0.03%]
[MTHFR和GGH基因多态性对儿童急性淋巴细胞白血病高甲氨喋呤方案血药浓度及毒性的影响]
Lin-Xiao Teng,Qi An,Lei Wang et al.
Lin-Xiao Teng et al.
Objectives: To investigate the effects of methylenetetrahydrofolate reductase (MTHFR) rs1801133 and γ-glutamyl hydrolase (GGH) rs11545078 gene polymorphisms on plasma concentrations and toxicity following high-dose metho...