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中日友好醫(yī)院 兒科
擅長(zhǎng): 在熟練處理兒科常見(jiàn)病和某些疑難病的基礎(chǔ)上,側(cè)重于遺傳代謝病,如軟骨發(fā)育不全等遺傳性侏儒和遺傳性高苯丙氨酸血癥(苯丙酮尿癥、四氫生物喋呤缺乏癥)。已診治了1200多例PKU患者,居國(guó)內(nèi)領(lǐng)先水平。2005年4月至今為北京篩查中心篩查出的所有高苯丙氨酸血癥患者進(jìn)行PKU、BH4D的診斷及鑒別診斷。為40個(gè)PKU家庭作了產(chǎn)前基因診斷,防止了第二胎患病胎兒的出生,對(duì)提高我國(guó)人口素質(zhì)有重要意義。多次參加歐美等國(guó)際會(huì)議并做大會(huì)發(fā)言及Poster交流。?
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