Chiang SC - Search Results

1

Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment.

Chien YH, Chiang SC, Huang A, Lin JM, Chiu YN, Chou SP, Wang TR, Hwu WL. Chien YH, et al. Among authors: chiang sc. Acta Paediatr Taiwan. 2004 Nov-Dec;45(6):320-3. Acta Paediatr Taiwan. 2004. PMID: 15868846

2

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. Among authors: chiang sc. Acta Paediatr Taiwan. 2002 Nov-Dec;43(6):330-3. Acta Paediatr Taiwan. 2002. PMID: 12632786

3

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. Among authors: chiang sc. Hum Mutat. 2004 Feb;23(2):206. doi: 10.1002/humu.9215. Hum Mutat. 2004. PMID: 14722928

4

Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese.

Huang YT, Chien Y-, Yeh HY, Lin SJ, Lu FL, Chou SP, Lin JM, Chiang SC, Hwu WL. Huang YT, et al. Among authors: chiang sc. J Formos Med Assoc. 2003 Dec;102(12):851-6. J Formos Med Assoc. 2003. PMID: 14976564

5

A step-wise diagnosis of fragile X syndrome in Taiwan.

Huang YT, Chiang SC, Tzeng CC, Liu CH, Chien YH, Hwu WL. Huang YT, et al. Among authors: chiang sc. Acta Paediatr Taiwan. 2004 Mar-Apr;45(2):69-72. Acta Paediatr Taiwan. 2004. PMID: 15335113

6

Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.

Hwu WL, Huang YT, Chien YH, Yeh HY, Lu F, Chou SP, Lin JM, Chiang SC. Hwu WL, et al. Among authors: chiang sc. Hum Genet. 2003 Sep;113(4):365. Hum Genet. 2003. PMID: 12974275 No abstract available.

7

Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.

Hwu WL, Huang YT, Chien YH, Yeh HY, Lu F, Chou SP, Lin JM, Chiang SC. Hwu WL, et al. Among authors: chiang sc. Hum Genet. 2003 Sep;113(4):367. Hum Genet. 2003. PMID: 12974280 No abstract available.

8

KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.

Lin LK, Chien YH, Wu JY, Wang AH, Chiang SC, Hwu WL. Lin LK, et al. Among authors: chiang sc. Mol Vis. 2005 Apr 1;11:245-8. Mol Vis. 2005. PMID: 15827546 Free article.

9

Spectrum of hypermethioninemia in neonatal screening.

Chien YH, Chiang SC, Huang A, Hwu WL. Chien YH, et al. Among authors: chiang sc. Early Hum Dev. 2005 Jun;81(6):529-33. doi: 10.1016/j.earlhumdev.2004.11.005. Epub 2004 Dec 19. Early Hum Dev. 2005. PMID: 15935930

10

Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism.

Lin CH, Hwu WL, Chiang SC, Tai CH, Wu RM. Lin CH, et al. Among authors: chiang sc. Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):434-8. doi: 10.1002/ajmg.b.30427. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17440947

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