复合性羧化酶缺乏症一例

来源 :中华医学遗传学杂志 | 被引量 : 0次 | 上传用户:love4898
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
患儿 女 ,5个月。因嗜睡半个月、气喘 1天、肢体抖动数次 ,门诊疑为“病毒性脑膜炎”收入院。患儿出生后头发稀少、黄。半个月时开始出长气。约 70天时出现喷射状呕吐 ,耳内常有严重湿疹 ,头、脸及腰部亦有散在湿疹。 4个月时出现摇头动作 ,并伴有嗜睡、尖叫及发育倒退。患儿 Children with children, 5 months. Due to lethargy for half a month, asthma 1 day, limb jitter several times, out-patient suspected “viral meningitis” income hospital. Children born after hair scarce, yellow. Half a month began to grow a long time. Spit-like vomiting occurs in about 70 days, with severe eczema in the ear and scattered eczema in the head, face and waist. 4 months when shaking his head movements, accompanied by drowsiness, screaming and development regress. Children
其他文献
asdf719@sina.com问:我的孩子快1岁了,前几天突然发烧,体温达到39℃,我们觉得可能是扁桃体发炎,就给他服用了一些退烧药,同时让他多喝水以缓解症状。几天后,他的体温降下来了
Objective: To compare the efficacy and acceptability of sameday misoprostol and overnight laminaria for cervical ripening before early second-trimester surgical
It is reported that the highly dispersed Pt nanoparticles on carbon nanotubes can be synthesized under mild conditions by in situ plasma treatment.The carbon na
Objective: This study was undertaken to compare the use of glyburide with insulin for the treatment of gestational diabetes mellitus (GDM) unresponsive to diet
A two-stage transition upon crossing the glass transition of polystyrene with increasing temperature was precisely determined and interpreted by using solid-sta
研究了利用弛豫型铁电三元聚合物薄膜P(VDF-TrF E-CFE)的热释电性质,以温度波动作为初始能量形式进行热电能量的采集。由于该聚合物薄膜在发生由温度变化诱导的纳米极性区极
Objective: To estimate the effect of second-trimester levels of maternal serum alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), unconjugated estrio
主要介绍了广西岩滩机组进水口闸门系统的设计原则及系统的结构、硬件配置、系统功能和特点。 This paper mainly introduces the design principles, system structure, ha
省油、可靠、服务好面对市面上种类繁多的重卡产品,每一位用户都有自己的“心头好”。在回答《商用汽车新闻》记者“买车看重哪些方面”的问题时,35岁的葫芦岛资深卡车司机马
水果一年四季都有,可每种水果都是应季的自然熟水果吗?其实“毒”水果事件在我们身边每天都在上演,已经成为严重威胁人们尤其是儿童健康的公害。一些不法商贩为了追求私利,用