journal1 ›› 2017, Vol. 25 ›› Issue (11): 1186-1188.DOI: 10.11852/zgetbjzz2017-25-11-30
Received:
2017-06-06
Online:
2017-11-10
Published:
2017-11-10
童凡,杨茹莱,赵正言
通讯作者:
赵正言,E-mail:zhaozy@zju.edu.cn
作者简介:
童凡(1970-),女,浙江人,副主任医师,硕士学位。主要研究方向为儿童罕见病诊治;新生儿遗传代谢病筛查、诊断、治疗;新生儿危重症救治。
基金资助:
CLC Number:
童凡,杨茹莱,赵正言. 晚发性维生素B2反应型多种酰基辅酶A脱氢酶缺乏症1例[J]. 中国儿童保健杂志, 2017, 25(11): 1186-1188.
Add to citation manager EndNote|Ris|BibTeX
URL: http://cjchc.xjtu.edu.cn/EN/10.11852/zgetbjzz2017-25-11-30
[1] Grüner SC.Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency[J].Orphanet J Rare Dis,2014,9:117-124. [2] Mumtaz HA,Gupta V,Singh P,et al.MR imaging findings of glutaric aciduria type Ⅱ[J].Singapore Med J,2010,51(4):e69-e71. [3] Tamaoki Y,Kimura M,Hasegawa Y,et al.A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000[J].Brain Dev,2002,24(7):675-680. [4] Han LS,Ye J,Qiu WJ,et al.Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China:a four-year report[J].J Inherit Metab Dis,2007,30(4):507-514. [5] 温冰,焉传祝.中国人核黄素反应性脂质沉积性肌病多是由ETFDH基因突变所致[J].中华神经科杂志,2010,43(5):363. [6] 章瑞南,邱文娟,叶军,等.多种酰基辅酶A脱氢酶缺乏症儿童与成人患者临床特点比较[J].临床儿科杂志,2012,30(5):446-449. [7] Liang WC,Tsai KB,Lai CL,et al.Riboflavin-responsive glutaric aciduria type Ⅱ with recurrent pancreatitis[J].Pediatr Neurol,2004,31(3):218-221. [8] Olsen RK,Andresen BS,Christensen E,et al.Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency[J].Hum Mutat,2003,22(1):12-23. [9] Cornelius N,Frerman FE,Corydon TJ,et al.Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency[J].Hum Mol Genet,2012,21(15):3435-3448. |
[1] | . [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1161-1162. |
[2] | ZONG Xin'nan. History, achievements, problems and prospects of survey and research on physical growth and development of children in China [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1163-1168. |
[3] | LI Dongdan, WU Jie. Individualized nutritional management strategies for food allergy in children [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1169-1172. |
[4] | WANG Xi, LYU Huiling, HU Jiale, HAN Di, DING Ziyao, SHEN Hui, HU Jia. Association between the pubertal timing and high blood pressure in children and adolescents in Suzhou City [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1173-1178. |
[5] | CAI Bingyao, CAO Ying, ZHU Siying, CAO Da, JIANG Jianuo, DONG Yanhui, MA Jun. Influence of lifestyle on overweight and obesity, abnormally high blood pressure and their morbidity among college students in northern China [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1179-1185. |
[6] | DUAN Peifen, YUAN Jianhui, FENG Xiangxian. Effect of childhood obesity intervention on body shape perception and the mediating role of body shape perception in changes of obesity indicators [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1186-1189. |
[7] | HUANG Kun, LI Xiuhong, WU Jiaqi, CHEN Jin, HAN Xiaopu, LIN Rong. Association between outdoor activity time of students and scoliosis [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1190-1195. |
[8] | LIU Junting, LI Shaoli, CHEN Fangfang, ZONG Xinnan, HUANG Chunlei, ZHANG Tong, TAI Jun, GU Qinglong, On behalf of the Beijing Children and Adolescent Health Cohort Collaborative Group. Baseline characteristics analysis of the Beijing Children and Adolescents Natural Population Cohort [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1212-1218. |
[9] | ZHANG Fen, JIA Lina. Research progress on food preferences of children and adolescents [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1219-1225. |
[10] | WU Huahong, SHU Wen, YU Chengdong, ZHANG Yaqin, WU Ting, ZONG Xinnan. Meta-analysis of effect of calcium supplementation on children's height [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1246-1251. |
[11] | WU Shuxian, WU Qingqing, WANG Lei, ZHAO Xiang, LYU Qiaohong, HUANG Yu. Pathway of the effect of screen exposure on overweight and obesity among children and adolescents [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1252-1255. |
[12] | DING Yonggang, LI Libo, MA Zhen, ZARXI Quzha. Non-suicidal self-injurious behaviors and associations with help-seeking behaviors among Tibetan middle school students in agricultural and pastoral areas of Tibet [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1064-1069. |
[13] | LIANG Guiye, GONG Jian, ZHOU Yue, GONG Linlin, WANG Yanni, XUE Hongli. Sleep health status and its influencing factors among primary and secondary school students in Lanzhou City [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1070-1075. |
[14] | JIN Guihua, CUI Wenxiang. Comparison of the detection rates of new media dependence and addiction among adolescents with different family social capital in the Yanbian area [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1085-1090. |
[15] | LI Tiangeng, GUO Liang, ZENG Sai, ZHENG Gangbin. Correlation of physical activity and sedentary behavior with cognitive development of preschool children [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1111-1115. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||