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...
Cerebral salt-wasting syndrome after hematopoietic stem cell transplantation in adolescents: 3 case reports [0.03%]
血细胞移植后青少年的脑盐耗损综合征：3例报告
Yeon Jin Jeon,Hyun Young Lee,In Ah Jung et al.
Yeon Jin Jeon et al.
Cerebral salt-wasting syndrome (CSWS) is a rare disease characterized by a extracellular volume depletion and hyponatremia induced by marked natriuresis. It is mainly reported in patients who experience a central nervous system insult, such...
Blood glucose levels within 7 days after birth in preterm infants according to gestational age [0.03%]
早产儿出生后一周内的血糖水平及其与胎龄的关系
Ju Young Yoon,Hye Rim Chung,Chang Won Choi et al.
Ju Young Yoon et al.
Purpose: This study investigated blood glucose levels in preterm babies according to gestational age (GA). Methods: Subjects were 141 p...