A case report of alpha 1-antitrypsin deficiency
LU Hua-Jun, ZHAO Zhong-Yan
Department of Digestion, Yuying Children's Hospital of Wenzhou Medical College, Wenzhou, Zhejiang 325027, China.
Abstract No abstract available
[1]DeMeo DL, Silverman EK. Alpha 1-antitrypsin deficiency, 2: genetic aspects of alpha 1-antitrypsin geficiency: phenotypes and genetic modifiers of emphysema risk[J]. Thorax, 2004, 59(3): 259-264.
[2]Fairbanks KD, Tavill AS. Liver disease in alpha 1-antitrypsin deficiency: a Review[J]. Am J Gastroenterol, 2008, 103(8): 2136-2141.
[3]李富军,袁伟建.α1-抗胰蛋白酶缺乏症一例[J].中华消化杂志,2002,22(12):744.
[4]饶日春,郑瑞丹,刘升湘,张闽峰. α1-抗胰蛋白酶缺乏症合并慢性乙型病毒性肝炎1例[J].中西医结合肝病杂志,2003,13(5):310-311.
[5]巫贵成.α1-抗胰蛋白酶缺乏症1例[J].肝脏,2008,13(6):498.
[6]De Oliveira P, Paz-Melgar L, Takahashi MD, Nico MM, Rivitti EA, Mendrone A Jr, et al. Alpha-1-antitrypsin deficiency associated with panniculitis treated with plasma exchange therapy[J]. Int J Dermatol, 2004, 43(9): 693-697.
[7]Teckman JH. Lack of effect of oral 4phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study[J]. J Pediatr Gastroenterol Nutr, 2004, 39(1): 34-37.
[8]Cruz PE, Mueller C, Cossette TL, Golant A, Tang Q, Beattie SG, et al. In vivo post-transcriptional gene silencing of alpha 1-antitrypsin by adeno-associated virus vectors expressing siRNA[J]. Lab Invest, 2007, 87(9): 893902.
[9]Kelly E, Greene CM, Carroll TP, McElvaney NG, O′Neill SJ. Alpha-1 antitrypsin deficiency[J]. Respir Med, 2010, 104(6): 763-772.
[1]
XIONG Zhen-Yu, HAN Zi-Yan, HAN Zhen-Hui, ZHANG Xi, GAO Xi-Qing, GAI Yong, LIAN Jie. A family-based transmission disequilibrium test of polymorphisms of endothelial nitric oxide synthase gene in children with orthostatic intolerance [J]. 中国当代儿科杂志, 2012, 14(12): 960-963.
[2]
ZHANG Hao, FENG Chen, TANG Suo-Qin. Wilms' tumor and ring chromosome 11 in a child [J]. 中国当代儿科杂志, 2012, 14(12): 993-994.
[3]
WANG Yan, WU Hong-Lin, DU Zhen-Lan, LIU Xin, LI Hao, HE Xi-Yu, WANG Chun-Zhi. Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa [J]. 中国当代儿科杂志, 2012, 14(11): 856-858.
[4]
PENG Jing, WU Ling-Qian, ZHOU Ming-Xing, ZHONG Le, YIN Fei. A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study [J]. CJCP, 2012, 14(11): 879-880.
[5]
MA Yan-Yan, YANG Yan-Ling. Mitochondrial respiratory chain complex Ⅱ deficiency and diseases [J]. 中国当代儿科杂志, 2012, 14(10): 723-727.
[6]
HU Man, MA Hong-Wei, LUO Yang, WANG Lin, SONG Ying, LI Fang. Gene diagnosis of alkaptonuria in an infant [J]. 中国当代儿科杂志, 2012, 14(10): 796-797.
[7]
SHI Rui-Ming, CAO Xiao-Qin, LUO Shu-Fang, FANG Xia-Ling, WANG Rong-Hua, LIU Zhi-Gang. Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome [J]. 中国当代儿科杂志, 2012, 14(09): 678-682.
[8]
LUO Shu-Ying, TAN Li-Na, WEI Hai-Yan, ZHANG Yao-Dong, CHEN Yong-Xing. Association of cytotoxic T lymphocyte-associated antigen-4+49A/G polymorphism with childhood type 1 diabetes mellitus: a meta-analysis [J]. 中国当代儿科杂志, 2012, 14(09): 683-688.
[9]
XU Fang-Xiang, LIAO Xiang-Fu, LIU Dong-Hai, HE Qing-Nan. Trichothiodystrophy complicated by SIBI(D)S syndrome: a case report [J]. 中国当代儿科杂志, 2012, 14(09): 717-718.
[10]
LIU Yu-Peng, MA Yan-Yan, WU Tong-Fei, WANG Qiao, KONG Qing-Peng, WEI Xiao-Qiong, ZHANG Yao, SONG Jin-Qing, CHANG Xing-Zhi, ZHANG Yue-Hua, XIAO Jiang-Xi, YANG Yan-Ling. Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene [J]. 中国当代儿科杂志, 2012, 14(08): 561-566.
[11]
HUANG Yong-Lan, LI She-Yong, ZHAO Xiao-Yuan, FAN Li-Ping, LIN Wen-Chun, ZHOU Zhi-Hong, CHENG Jing, LIU Li. Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis [J]. 中国当代儿科杂志, 2012, 14(07): 510-514.
[12]
ZHANG Hai-Yan, LIU Chang-Yun, WANG Yong-Qin. Risk factors for Tourette syndrome [J]. 中国当代儿科杂志, 2012, 14(06): 426-430.
[13]
ZHAN Shi-Na, WANG Chun-Zhi, YANG Yao, WANG Yan, WU Hong-Lin, LI Hao, HE Xi-Yu. Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome [J]. 中国当代儿科杂志, 2012, 14(06): 445-448.
[14]
LIU Fang, MIAO Qing, JIAO Wei-Wei, XIAO Jing, SUN Lin, SHEN Chen, WU Xi-Rong, SHEN Dan, YIN Qing-Qin, SHEN A-Dong. Genotype and phenotype polymorphisms of NAT2 and CYP2E1 in the Han Chinese pediatric population [J]. 中国当代儿科杂志, 2012, 14(5): 353-358.
[15]
ZHENG Lei, LIU Dong-Hai, HAO Sheng-Ju, YI Bin, YAN You-Sheng. Value of oral mucosa cast-off cells as samples in fluorescent in situ hybridization for the diagnosis of Down's syndrome [J]. 中国当代儿科杂志, 2012, 14(3): 202-204.