个人简介

林伟霞，女，医学博士，主治医师。中国医师协会新生儿科医师分会遗传性肝病学组委员兼秘书，广东省医学会儿科学分会青委会委员，广东省企业科技特派员。擅长新生儿危重症救治、小儿遗传代谢病、儿童保健及儿科常见病的诊治。研究方向是遗传代谢病，曾报道国内首例婴儿肝衰竭综合征I型患者及国内最大的希特林缺陷病患者研究队列。参与国自然基金项目5项，主持省部级科研项目2项，国内外发表论文20余篇。

学术任职

中国医师协会新生儿科医师分会遗传性肝病学组委员兼秘书、广东省医学会儿科学分会青委会委员、广东省企业科技特派员

主研方向

小儿遗传代谢病

获奖情况

1.Young Investigator Award of ACIMD/JSIMD 2013. The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD) / The 55^th Annual Meeting of The Japanese Society for Inherited Metabolic Diseases (JSIMD), Maihama, Japan, 2013.

2.Award for Young Asian Speakers in JSIMD. The 56^th Annual Meeting of The Japanese Society for Inherited Metabolic Diseases (JSIMD), Sandai, Japan, 2014.

3.2022年度暨南大学附属第一医院疫情防控工作先进个人

学术论著

(1) Lin WX, Deng LJ, Liu R, Qiu JW, Cheng Y, Zhang ZH, Chen FP, Song YZ. Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice.site variants in SLC25A13. Eur J Med Genet. 2021; 64(3):104145.

(2) Lin WX, Yaqub MR, Zhang ZH, Mao M, Zeng HS, Chen FP, Li WM, Cai WZ, Li YQ, Tan ZY, Sheng W, Li ZM, Tao XL, Li YX, Zhang JP, Han YB, Li Yan, Duan WQ, Ye BN, Li YR, Song YZ. Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China. Transl Pediatr. 2021;10(6):1658-1667.

(3) 林伟霞, 郑琪琪, 郭丽, 程映, 宋元宗. 首例非白人婴儿肝衰竭综合征1型患儿临床特点和分子诊断研究, 中国当代儿科杂志. 2017, 19(08): 913-920.

(4) Lin WX, Zeng HS, Zhang ZH, Mao M, Zheng QQ, Zhao ST, Cheng Y, Chen FP, Wen WR, Song YZ. Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. Sci Rep. 2016; 6:29732.