Relationships of physical fitness and obesity with metabolic risk factors in children and adolescents: Chungju city cohort study [0.03%]
儿童和青少年体质指数与代谢危险因素的关系：忠州队列研究
Hyo Jin Kim,Kyu-Jin Lee,Yeon Jin Jeon et al.
Hyo Jin Kim et al.
Purpose: The purpose of this study was to investigate the relationships of physical fitness and obesity with metabolic risk factors in children and adolescents. ...
Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome [0.03%]
诺恩ان综合征矮小患者的长期生长激素替代治疗效果研究
Insook Jeong,Eungu Kang,Ja Hyang Cho et al.
Insook Jeong et al.
Purpose: Noonan syndrome (NS) is characterized by short stature, heart anomalies, developmental delays, dysmorphic features, cryptorchidism, and coagulation defects. Several studies reported the short-term effects of reco...
Efficacy of pamidronate in pediatric osteosarcoma patients with low bone mineral density [0.03%]
治疗儿童骨密度较低的骨肉瘤患者的帕米膦酸二钠疗效研究
Se Won Lim,Ju Hyun Ahn,Aery Choi et al.
Se Won Lim et al.
Purpose: Most surviving pediatric osteosarcoma patients experience osteoporosis, bone pain, and pathologic fracture during and after therapy. The aim of this study was to evaluate the efficacy and side effects of pamidron...
Yoon-Myung Kim,Ja Hyang Cho,Eungu Kang et al.
Yoon-Myung Kim et al.
Purpose: Williams-Beuren syndrome (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global cognitive impairment, dysmorphic facial features, and supravalvular aortic stenosis. End...
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management [0.03%]
sitosterolemia：发病机制、临床表现、诊断及治疗的综述与更新
Eun-Gyong Yoo
Eun-Gyong Yoo
Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in patients with normolipemic xanthomas, severe hypercholester...
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [0.03%]
21-羟化酶缺乏症所致先天性肾上腺增生生化及分子分析的新进展
Jin-Ho Choi,Gu-Hwan Kim,Han-Wook Yoo
Jin-Ho Choi
The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands....
Erratum to: Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry [0.03%]
newborn筛查代谢性疾病的研究基于目标代谢组学串联质谱筛选新生儿代谢障碍的 Erratum
Hye-Ran Yoon
Hye-Ran Yoon
[This corrects the article on p. 119 in vol. 20, PMID: 26512346.].
Min Kyung Yu,Mo Kyung Jung,Ki Eun Kim et al.
Min Kyung Yu et al.
Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, disse...
Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes [0.03%]
新型盐皮质激素受体功能多态致新生儿假性低醛固酮症症候群一例
Hyun Ah Jeong,Yoon Kyoung Park,Yeong Sang Jung et al.
Hyun Ah Jeong et al.
Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance t...
Jae Yeop Jung,Sohyoung Yang,Eun-Hwan Jeong et al.
Jae Yeop Jung et al.
Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or se...