Wnt signaling in bone [0.03%]
骨发育和稳态中的Wnt信号通路
Takuo Kubota,Toshimi Michigami,Keiichi Ozono
Takuo Kubota
Wnt signaling is involved not only in embryonic development but also in maintenance of homeostasis in postnatal tissues. Multiple lines of evidence have increased understanding of the roles of Wnt signaling in bone since mutations in the LR...
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2) [0.03%]
葡萄糖激酶基因的新突变在成人发病青年糖尿病2型中的作用
Wakako Jo,Kenji Fujieda,Toshihiro Tajima
Wakako Jo
Prolonged Intracranial Hypertension after Recombinant Growth Hormone Therapy due to Impaired CSF Absorption [0.03%]
重组人生长激素治疗导致脑脊液吸收障碍和颅内高压的病例报告
Kaoru Obinata,Ayako Kamata,Keiji Kinoshita et al.
Kaoru Obinata et al.
We experienced a case of a Japanese boy who developed intractable idiopathic intracranial hypertension (IIH) during growth hormone (GH) treatment. At the age of 4 yr, the boy was diagnosed with idiopathic growth hormone deficiency, and reco...
Shigeru Nagaki,Eiko Otsuka,Kumiko Miwa et al.
Shigeru Nagaki et al.
Hypothalamic hamartoma (HH) is a congenital malformation diagnosed based on magnetic resonance imaging (MRI) and histological findings; it is often associated with central precocious puberty (CPP), gelastic seizures, abnormal behavior and m...
Contiguous Xp11.4 Gene Deletion Leading to Ornithine Transcarbamylase Deficiency Detected by High-density Single-nucleotide Array [0.03%]
高密度单核苷酸多态性阵列芯片检测到的鸟氨酸转甲酰酶缺乏症患者的Xp11.4区带缺失变异
Mizuho Ono,Junnosuke Tsuda,Yoko Mouri et al.
Mizuho Ono et al.
Ornithine transcarbamylase (OTC) is one of the enzymes involved in the urea cycle. OTC deficiency, which is caused by impaired synthesis of OTC in the liver, is the most common inherited disease of urea cycle disorders. In this paper, we de...
Leydig Cell Testicular Tumour Presenting as Isosexual Precocious Pseudopuberty in a 5 Year-old Boy with No Palpable Testicular Mass [0.03%]
五年男孩异位性早熟假性性早熟的间质细胞瘤一例（无睾丸肿物）
Roberto Méndez-Gallart,Adolfo Bautista,Elina Estevez et al.
Roberto Méndez-Gallart et al.
Leydig cell testicular tumors are very rare in children and cause isosexual precocious puberty. Palpable testicular mass or asymmetric testes are common findings on routine examination. We report on a 5-yr-old boy with a Leydig cell tumor o...
Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male [0.03%]
一名5岁男性X连锁肾上腺脑白质营养不良病例的复发性阴离子间隙性酸中毒型特殊表现形式
Joel Schwab,Loren Pena,Laura Sigman et al.
Joel Schwab et al.
We are presenting a five-year-old male with recurrent anion gap acidosis. During his last admission, it was detected that he had elevated VLCFA and the evaluation discovered that he had X-linked Adrenooleukodystrophy. He had the Addisonian ...
Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases [0.03%]
致死性围生期低磷性佝偻病的临床特征(6例报告)
Akari Nakamura-Utsunomiya,Satoshi Okada,Keiichi Hara et al.
Akari Nakamura-Utsunomiya et al.
Hypophosphatasia is a rare inherited disorder caused by deficient tissue-nonspecific alkaline phosphatase activity. It is classified into 6 subtypes, and the perinatal lethal form of hypophosphatasia is the most severe. Patients with this f...
Association between Sex, Age, Insulin Regimens and Glycemic Control in Children and Adolescents with Type 1 Diabetes [0.03%]
性别、年龄、胰岛素治疗方案与1型糖尿病患儿血糖控制的关系分析
Tatsuhiko Urakami,Junichi Suzuki,Ayako Yoshida et al.
Tatsuhiko Urakami et al.
We examined the association between sex, age, insulin regimens and glycemic control in 133 Japanese children and adolescents, 42 males and 61 females aged 16.8 ± 7.0 yr, with type 1 diabetes mellitus (T1DM). The patients were divided into ...
H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency [0.03%]
CYP21A2 H62L突变与21-羟化酶非典型型缺乏症的关系研究
Keisuke Nagasaki,Takeshi Usui,Tadashi Asami et al.
Keisuke Nagasaki et al.