新生儿期起病的遗传性代谢病

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LIU Feng, QIU Jie, ZHANG Chun-Mei, JI Chen-Bo, GUO Xi-Rong. Resistin inhibits rat insulinoma cell RINm5F proliferation[J]. 中国当代儿科杂志, 2010, 12(1): 43-46.

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ZHOU Zhen-Wen, DENG Qiu-Lian, XIA Hui-Min, GENG Lan-Lan, LIANG Wei-He, XIE Yong-Qiang, HUANG Yong, GONG Si-Tang. Cloning and sequence analysis of UreB of Helicobacter pylori isolated from children[J]. 中国当代儿科杂志, 2009, 11(12): 877-880.

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LUO Xu-Feng, ZHONG Jian-Min, ZHANG Xiao-Zhen, ZHOU Yin, CHEN Yong, WU Hua-Ping, YU Xiong-Ying. Hair root fragile X mental retardation protein assay for the diagnosis of fragile X syndrome[J]. 中国当代儿科杂志, 2009, 11(10): 817-820.

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LUAN Yun, JIAO Tie-Jian, LIU Kun. A case report of Alstrom syndrome[J]. 中国当代儿科杂志, 2007, 9(4): 369-370.

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SUN Shun-Chang, PENG Yun-Sheng, HE Jing-Bo. Changes of serum creatine kinase levels in children with Duchenne muscular dystrophy[J]. 中国当代儿科杂志, 2008, 10(1): 35-37.

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LIU Peng-Ju, MA Fang. Research advance on Prader-willi syndrome[J]. 中国当代儿科杂志, 2008, 10(4): 562-564.

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CHEN Xiao-Wen, LI Chang-Gang, YUE Li-Jie, ZHANG Min, CHEN Yun-Sheng, MAI Hui-Rong, WANG Ying, LI Cheng-Rong. Genetic diagnosis for female carriers of glucose-6-phosphate dehydrogenase deficiency by RT-PCR-DGGE[J]. 中国当代儿科杂志, 2009, 11(08): 613-616.

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CHEN Xiao-Wen, YUE Li-Jie, LI Chang-Gang, LI Cheng-Rong, ZHANG Min, SHI Hong-Song. Polymorphisms of thymidylate synthase gene detected by RT-PCR-denaturing gradient gel electrophoresis in children with acute leukemia[J]. 中国当代儿科杂志, 2009, 11(04): 251-254.

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HOU Ling, LIN Han-Hua, WU Li, LUO Xiao-Ping. Clinical characteristics of Wolfram syndrome[J]. 中国当代儿科杂志, 2009, 11(02): 113-115.

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DENG Jin-Yu, SONG Yuan-Zong, LIU Guo-Sheng, HAO Hu. Mucopolysaccharidosis II in two brothers: case report[J]. 中国当代儿科杂志, 2006, 8(4): 350-351.

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SONG Yuan-Zong, HAO Hu, NIU SI Mei-Qing, LIU Guo-Sheng, XIAO Xin, ZUO BO Wu-Dun, XIAO LIN Gui-Zi, WANG Zi-Neng. A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency[J]. 中国当代儿科杂志, 2006, 8(2): 125-128.

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SUN Fang, YANG Yan-Ling, QI Yu, SONG Jin-Qing, QIAN Ning, WANG Zhao-Xia, JIANG Yu-Wu, XIAO Jiang-Xi, WANG Li, QIN Jiong, WU Xi-Ru. 604G>C heterozygous mutation of SURF1 identified in a Chinese pedigree with Leigh syndrome[J]. 中国当代儿科杂志, 2005, 7(2): 115-118.

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LU Wei, LUO Xiao-Ping. [J]. 中国当代儿科杂志, 2005, 7(2): 179-182.

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SUN Fang, QI Yu, WANG Li. Current study on the clinical and molecular genetics of Leigh syndrome[J]. 中国当代儿科杂志, 2005, 7(2): 186-189.

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YU Bin, Ronald JA Trent. Present and prospective applications of genetic DNA testing (Ⅱ)[J]. 中国当代儿科杂志, 2004, 6(6): 538-540.