Letter to the Editor: Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL [0.03%]
读者来信：VHL基因新截短突变导致家族性和早发性儿童嗜铬细胞瘤pheochromocytoma的遗传和临床特点分析
Takeshi Sato,Junko Hanakawa,Reiko Iwano et al.
Takeshi Sato et al.
Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities [0.03%]
不同严重程度的低磷性佝偻病患者酶替代治疗的效果：两例患者的报道
Junko Kanno,Tomohiro Nakagawa,Akinobu Miura et al.
Junko Kanno et al.
Hypophosphatasia (HPP) is a hereditary disorder characterized by impaired bone mineralization caused by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity. Specifically, HPP is caused by a loss-of-function variant in the AL...
An urgent need for early diagnosis and universal health care: insights from a series of interviews with parents of children living with congenital adrenal hyperplasia in Indonesia [0.03%]
先天性肾上腺皮质增生症患儿家长访谈系列的见解：及早诊断和全民医疗的迫切需求
Aman Pulungan,Helena Arnetta Puteri,Vahira Waladhiyaputri et al.
Aman Pulungan et al.
Congenital adrenal hyperplasia (CAH) presents significant health challenges and requires a timely diagnosis and comprehensive treatment. This qualitative study assessed the experiences of parents of children with CAH in Indonesia, and focus...
Adiposity rebound and body mass index in Japanese patients with congenital hypothyroidism [0.03%]
日本先天性甲状腺功能减退症患者的肥胖反弹和体质指数变化
Kanako Nakayama,Naoya Kaneko,Nozomi Hishimura et al.
Kanako Nakayama et al.
The long-term prognosis of congenital hypothyroidism (CH) has become apparent since the introduction of newborn screening programs; however, the risk of obesity in patients with CH remains unclear. Early adiposity rebound (AR) is one of the...
Idiopathic infantile hypercalcemia with a CYP24A1 variant triggered by vitamin D supplementation in fortified milk: A case report [0.03%]
由维生素D触发的CYP24A1变异所导致的婴幼儿特发性高钙血症的一例报告
Sota Iwafuchi,Nao Uchida,Naoya Saijo et al.
Sota Iwafuchi et al.
Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the CYP24A1 locus. Although h...
Understanding the burden faced by families of children living with Type 1 diabetes mellitus in Indonesia: A multidimensional study on the financial, social, and psychosocial aspects [0.03%]
理解印度尼西亚1型糖尿病儿童家庭面临的负担：一项关于财务、社会和心理社会方面的多维度研究
Muhammad Faizi,Zi T La,Helena A Puteri et al.
Muhammad Faizi et al.
Type 1 diabetes mellitus (T1DM) is a lifelong disorder that affects all aspects of the lives of children and their families. A Health Needs Assessment (HNA) survey was conducted at two diabetes camps in Batu, East Java, and Parung, West Jav...
Current understanding and perspectives on growth and long-acting GH therapy in Japan [0.03%]
日本生长激素替代治疗的现状及展望
Yukihiro Hasegawa,Kento Ikegawa,Marie Mitani-Konno et al.
Yukihiro Hasegawa et al.
From the perspective of clinical pediatric endocrinology, progress in molecular biology over the past few decades has improved our understanding of growth physiology. This progress was particularly conspicuous in the early era of Sanger-bas...
Complex equilibrium involving aldosterone underlies the pathophysiology of renovascular hypertension [0.03%]
复杂平衡机制介导的醛固酮增多参与了肾血管性高血压的发病机制
Masanori Adachi,Takanari Fujii,Ayako Ochi et al.
Masanori Adachi et al.
The mechanisms underlying the maintenance of hypertension in renovascular hypertension (RVH) are not well understood. To test the current concept of RVH pathophysiology, circulating aldosterone levels in clinical cases were investigated thr...
Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test [0.03%]
新生儿先天性肾上腺皮质增生症筛查中液相串联质谱的确认价值
Toshihiro Tajima
Toshihiro Tajima
In Japan, newborn screening (NBS) for congenital adrenal hyperplasia (CAH) began in 1989. NBS is useful for early diagnosis and preventing gender misidentification, however, it has a higher false positive rate for CAH compared to other dise...
Mortality rate and standardized mortality ratio of childhood-onset type 1 diabetes according to incidentally detected non-acute-onset or acute-onset subtype, sex, and onset age: A cohort study [0.03%]
童年期发病1型糖尿病死亡率和标准化死亡比：根据偶然发现的非急性起病或急性起病亚型、性别及发病年龄的一项队列研究
Hiroshi Yokomichi,Mie Mochizuki,Shigeru Suzuki et al.
Hiroshi Yokomichi et al.