Chien YH - Search Results

1

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Among authors: chien yh. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.

2

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

Chien YH, Chiang SC, Huang A, Chou SP, Tseng SS, Huang YT, Hwu WL. Chien YH, et al. Hum Mutat. 2004 Feb;23(2):206. doi: 10.1002/humu.9215. Hum Mutat. 2004. PMID: 14722928

3

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Hwu WL, et al. Among authors: chien yh. Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074. Hum Mutat. 2009. PMID: 19621417 Free PMC article.

4

Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan.

Lin HY, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, Ke YY, Tsai FJ, Pan HP, Lin SJ, Hwu WL, Niu DM, Lee NC, Lin SP. Lin HY, et al. Among authors: chien yh. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S421-7. doi: 10.1007/s10545-010-9212-5. Epub 2010 Oct 6. J Inherit Metab Dis. 2010. PMID: 20924685

5

Rapid progressive course of later-onset Pompe disease in Chinese patients.

Yang CC, Chien YH, Lee NC, Chiang SC, Lin SP, Kuo YT, Chen SS, Jong YJ, Hwu WL. Yang CC, et al. Among authors: chien yh. Mol Genet Metab. 2011 Nov;104(3):284-8. doi: 10.1016/j.ymgme.2011.06.010. Epub 2011 Jun 22. Mol Genet Metab. 2011. PMID: 21757382

6

Diagnosing mucopolysaccharidosis IVA.

Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. Among authors: chien yh. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.

7

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.

Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT. Chiu YH, et al. Among authors: chien yh. Biochem Genet. 2014 Oct;52(9-10):415-29. doi: 10.1007/s10528-014-9657-6. Epub 2014 May 27. Biochem Genet. 2014. PMID: 24863100

8

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.

Lin HY, Chuang CK, Wang CH, Chien YH, Wang YM, Tsai FJ, Chou YY, Lin SJ, Pan HP, Niu DM, Hwu WL, Ke YY, Lin SP. Lin HY, et al. Among authors: chien yh. Mol Genet Metab Rep. 2016 Apr 18;7:63-9. doi: 10.1016/j.ymgmr.2016.04.003. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27134829 Free PMC article.

9

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

Chien YH, Chen PW, Lee NC, Hsieh WS, Chiu PC, Hwu WL, Tsai FJ, Lin SP, Chu SY, Jong YJ, Chao MC. Chien YH, et al. Mol Genet Metab. 2016 Aug;118(4):259-63. doi: 10.1016/j.ymgme.2016.05.011. Epub 2016 May 16. Mol Genet Metab. 2016. PMID: 27216367

10

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP. Lin HY, et al. Among authors: chien yh. Orphanet J Rare Dis. 2016 Jun 27;11(1):85. doi: 10.1186/s13023-016-0471-6. Orphanet J Rare Dis. 2016. PMID: 27349225 Free PMC article.

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