Chen YJ - Search Results

1

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. Lee CL, et al. Among authors: chen yj. Mol Genet Genomic Med. 2019 Aug;7(8):e790. doi: 10.1002/mgg3.790. Epub 2019 Jun 18. Mol Genet Genomic Med. 2019. PMID: 31215158 Free PMC article.

2

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

Cheng KH, Liu MY, Kao CH, Chen YJ, Hsiao KJ, Liu TT, Lin HY, Huang CH, Chiang CC, Ho HJ, Lin SP, Lee NC, Hwu WL, Lin JL, Hung PY, Niu DM. Cheng KH, et al. Among authors: chen yj. J Chin Med Assoc. 2010 Jun;73(6):314-8. doi: 10.1016/S1726-4901(10)70067-8. J Chin Med Assoc. 2010. PMID: 20603089 Free article.

3

Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.

Liao HC, Hsu TR, Young L, Chiang CC, Huang CK, Liu HC, Niu DM, Chen YJ. Liao HC, et al. Among authors: chen yj. Mol Genet Metab. 2018 Feb;123(2):140-147. doi: 10.1016/j.ymgme.2017.06.002. Epub 2017 Jun 8. Mol Genet Metab. 2018. PMID: 28615118

4

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

Liao HC, Huang YH, Chen YJ, Kao SM, Lin HY, Huang CK, Liu HC, Hsu TR, Lin SP, Yang CF, Fann CS, Chiu PC, Hsieh KS, Fu YC, Ke YY, Lin CY, Tsai FJ, Wang CH, Chao MC, Yu WC, Chiang CC, Niu DM. Liao HC, et al. Among authors: chen yj. Clin Chim Acta. 2013 Nov 15;426:114-20. doi: 10.1016/j.cca.2013.09.008. Epub 2013 Sep 19. Clin Chim Acta. 2013. PMID: 24055776 Free article.

5

Chen JE, Chen YR, Wang HH, Niu DM, Cheng YF, Chen YJ. Chen JE, et al. Among authors: chen yj, chen yr. Pediatr Neonatol. 2023 Jan;64(1):91-92. doi: 10.1016/j.pedneo.2022.06.005. Epub 2022 Jul 31. Pediatr Neonatol. 2023. PMID: 35973905 Free article. Review. No abstract available.

6

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

Liao HC, Chiang CC, Niu DM, Wang CH, Kao SM, Tsai FJ, Huang YH, Liu HC, Huang CK, Gao HJ, Yang CF, Chan MJ, Lin WD, Chen YJ. Liao HC, et al. Among authors: chen yj. Clin Chim Acta. 2014 Apr 20;431:80-6. doi: 10.1016/j.cca.2014.01.030. Epub 2014 Feb 7. Clin Chim Acta. 2014. PMID: 24513544

7

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

Chen CP, Lin SP, Chern SR, Chen YJ, Tsai FJ, Wu PC, Wang W. Chen CP, et al. Among authors: chen yj. Eur J Med Genet. 2010 Jul-Aug;53(4):217-20. doi: 10.1016/j.ejmg.2010.03.006. Epub 2010 Mar 24. Eur J Med Genet. 2010. PMID: 20346423

8

Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature.

Chien JC, Chen SJ, Tiu CM, Chen YJ, Hwang B, Niu DM. Chien JC, et al. Among authors: chen yj, chen sj. Eur J Pediatr. 2005 Jun;164(6):350-4. doi: 10.1007/s00431-005-1630-2. Epub 2005 Feb 24. Eur J Pediatr. 2005. PMID: 15729561 Review.

9

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.

Niu DM, Huang JY, Li HY, Liu KM, Wang ST, Chen YJ, Udaka T, Izumi K, Kosaki K. Niu DM, et al. Among authors: chen yj. Prenat Diagn. 2006 Nov;26(11):1054-7. doi: 10.1002/pd.1554. Prenat Diagn. 2006. PMID: 16958143

10

Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.

Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W. Chen CP, et al. Among authors: chen yj, chen m. Prenat Diagn. 2006 Aug;26(8):725-9. doi: 10.1002/pd.1496. Prenat Diagn. 2006. PMID: 16927391

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