本科陣容

小兒科 李忠霖 醫師

李忠霖 醫師

醫師代號(No)

6122

專長

一般兒童內科、呼吸道及腸胃疾病、罕見疾病、兒科急症、先天性遺傳及新陳代謝疾病、遺傳諮詢、新生兒篩檢異常。

學歷

長庚大學醫學系

經歷

馬偕兒童醫院 兒科住院醫師
馬偕兒童醫院 兒童遺傳科總醫師
新竹馬偕醫院兒童急救加護醫學科主治醫師

現任

新竹馬偕醫院兒童急救加護醫學科主治醫師

學會

新竹市醫師公會
臺灣兒科醫學會
台灣兒童急診醫學會
中華民國人類遺傳學會

著作

1.Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
Lee CL, Tan LTH, Lin HY, Hwu WL, Lee NC, Chien YH, Chuang CK, Wu MH, Wang JK, Chu SY, Lin JL, Lo FS, Su PH, Hsu CC, Ko YY, Chen MR, Chiu HC, Lin SP. Am J Med Genet A. 2020 Feb;182(2):357-364.
2.Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses.
Lin HY, Chuang CK, Lee CL, Chen MR, Sung KT, Lin SM, Hou CJ, Niu DM, Chang TM, Hung CL, Lin SP.
Diagnostics (Basel). 2020 Jan 23;10(2):62
3.Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
Lin HY, Tu RY, Chern SR, Lo YT, Fran S, Wei FJ, Huang SF, Tsai SY, Chang YH, Lee CL, Lin SP, Chuang CK. Int J Mol Sci. 2019 Dec 23;21(1):114.
4.An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.
Lin HY, Lee CL, Lo YT, Tu RY, Chang YH, Chang CY, Chiu PC, Chang TM, Tsai WH, Niu DM, Chuang CK, Lin SP. Diagnostics (Basel). 2019 Oct 5;9(4):140.
5.Long-term outcomes of enzyme replacement therapy for Taiwanese patients with Mucopolysaccharidosis I.
Lin HY, Lee CL, Chuang CK, Lin SP.
Pediatr Neonatol. 2019 Oct;60(5):577-578.
6.Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.
Lin HY, Lee CL, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Lin SJ, Lin JL, Chang TM, Chuang CK, Lin SP.
Diagnostics (Basel). 2019 Oct 14;9(4):148.
7.Functional independence of Taiwanese patients with mucopolysaccharidoses.
Lee CL, Lin HY, Chuang CK, Chiu HC, Tu RY, Huang YH, Hwu WL, Tsai FJ, Chiu PC, Niu DM, Chen YJ, Chao MC, Chang TM, Lin JL, Chang CY, Kao YC, Lin SP. Mol Genet Genomic Med. 2019 Aug;7(8):e790.
8.Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan.
Lee CL, Lee CH, Chuang CK, Chiu HC, Chen YJ, Chou CL, Wu PS, Chen CP, Lin HY, Lin SP.
Pediatr Neonatol. 2019 Aug;60(4):453-460.
9.The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses.
Lin HY, Lee CL, Lo YT, Wang TJ, Huang SF, Chen TL, Wang YS, Niu DM, Chuang CK, Lin SP.
Mol Genet Genomic Med. 2018 Nov;6(6):982-992.
10.Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.
Lin HY, Chuang CK, Lee CL, Tu RY, Lo YT, Chiu PC, Niu DM, Fang YY, Chen TL, Tsai FJ, Hwu WL, Lin SJ, Chang TM, Lin SP. Am J Med Genet A. 2018 Sep;176(9):1799-1809.
11.Functional independence of Taiwanese children with Prader-Willi syndrome.
Lee CL, Lin HY, Tsai LP, Chiu HC, Tu RY, Huang YH, Chien YH, Lee NC, Niu DM, Chao MC, Tsai FJ, Chou YY, Chuang CK, Lin SP. Am J Med Genet A. 2018 Jun;176(6):1309-1314.
12.Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder.
Chen CP, Lin SP, Lee CL, Chern SR, Wu PS, Chen YN, Chen SW, Wang W. Taiwan J Obstet Gynecol. 2017 Feb;56(1):98-101.
13.Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay.
Chen CP, Lin SP, Lee CL, Chern SR, Wu PS, Chen YN, Chen SW, Wang W. Taiwan J Obstet Gynecol. 2017 Feb;56(1):93-97.

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