Chu SY - Search Results

1

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

Tzeng CC, Tsai LP, Hwu WL, Lin SJ, Chao MC, Jong YJ, Chu SY, Chao WC, Lu CL. Tzeng CC, et al. Among authors: chu sy. Am J Med Genet A. 2005 Feb 15;133A(1):37-43. doi: 10.1002/ajmg.a.30528. Am J Med Genet A. 2005. PMID: 15637705

2

Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.

Chien YH, Chiang SC, Huang A, Lin JM, Chiu YN, Chou SP, Chu SY, Wang TR, Hwu WL. Chien YH, et al. Among authors: chu sy. J Inherit Metab Dis. 2001 Dec;24(8):815-23. doi: 10.1023/a:1013984022994. J Inherit Metab Dis. 2001. PMID: 11916314

3

Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study.

Chu SY, Tsai WY, Chen LH, Wei ML, Chien YH, Hwu WL. Chu SY, et al. J Formos Med Assoc. 2002 Oct;101(10):691-4. J Formos Med Assoc. 2002. PMID: 12517042

4

Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan.

Chu SY, Chiang SC, Chien YH, Hwu WL. Chu SY, et al. Acta Paediatr Taiwan. 2002 Nov-Dec;43(6):330-3. Acta Paediatr Taiwan. 2002. PMID: 12632786

5

Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant.

Chien YH, Chu SY, Hsu CC, Hwu WL. Chien YH, et al. Among authors: chu sy. J Inherit Metab Dis. 2002 Nov;25(7):593-5. doi: 10.1023/a:1022099425316. J Inherit Metab Dis. 2002. PMID: 12638943 No abstract available.

6

Living-related liver transplantation for methylmalonic acidemia: report of one case.

Hsui JY, Chien YH, Chu SY, Lu FL, Chen HL, Ho MJ, Lee PH, Hwu WL. Hsui JY, et al. Among authors: chu sy. Acta Paediatr Taiwan. 2003 May-Jun;44(3):171-3. Acta Paediatr Taiwan. 2003. PMID: 14521026

7

Maple syrup urine disease presenting with neonatal status epilepticus: report of one case.

Wang IJ, Chu SY, Wang CY, Wang PJ, Hwu WL. Wang IJ, et al. Among authors: chu sy. Acta Paediatr Taiwan. 2003 Jul-Aug;44(4):246-8. Acta Paediatr Taiwan. 2003. PMID: 14674232

8

Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: report of one case.

Hwu WL, Kuo PL, Hung YT, Chien YH, Chu SY. Hwu WL, et al. Among authors: chu sy. Acta Paediatr Taiwan. 2004 Mar-Apr;45(2):97-9. Acta Paediatr Taiwan. 2004. PMID: 15335120

9

Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation.

Hsiue HC, Lee NC, Tsai HB, Yang CC, Wu CS, Lee WT, Weng WC, Fan PC, Chien YH, Hwu WL, Hung KL, Huang CC, Chen CH, Lin SJ, Chu SY, Wang TJ, Lu CJ, Lee PL. Hsiue HC, et al. Among authors: chu sy. Intensive Care Med. 2015 Aug;41(8):1493-5. doi: 10.1007/s00134-015-3879-x. Epub 2015 Jun 3. Intensive Care Med. 2015. PMID: 26077074 No abstract available.

10

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. Among authors: chu sy. 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

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