Tsai FJ - 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: tsai fj. 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

Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.

Chen CP, Lin SP, Tzen CY, Tsai FJ, Hwu WL, Wang W. Chen CP, et al. Among authors: tsai fj. Prenat Diagn. 2004 Mar;24(3):231-2. doi: 10.1002/pd.807. Prenat Diagn. 2004. PMID: 15057961 No abstract available.

3

Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.

Wan L, Hsu CM, Tsai CH, Lee CC, Hwu WL, Tsai FJ. Wan L, et al. Among authors: tsai ch, tsai fj. Blood Cells Mol Dis. 2006 May-Jun;36(3):422-5. doi: 10.1016/j.bcmd.2006.02.001. Epub 2006 Mar 20. Blood Cells Mol Dis. 2006. PMID: 16546416

4

Rapid screening assay of trimethylaminuria in urine with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Hsu WY, Lo WY, Lai CC, Tsai FJ, Tsai CH, Tsai Y, Lin WD, Chao MC. Hsu WY, et al. Among authors: tsai y, tsai ch, tsai fj. Rapid Commun Mass Spectrom. 2007;21(12):1915-9. doi: 10.1002/rcm.3043. Rapid Commun Mass Spectrom. 2007. PMID: 17510942

5

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

Chen CP, Lin SP, Tsai FJ, Chern SR, Wang W. Chen CP, et al. Among authors: tsai fj. Fertil Steril. 2008 Jun;89(6):1826.e5-7. doi: 10.1016/j.fertnstert.2007.06.065. Epub 2007 Oct 22. Fertil Steril. 2008. PMID: 17953951 Free article.

6

Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.

Lee HH, Lee YJ, Wang YM, Chao HT, Niu DM, Chao MC, Tsai FJ, Lo FS, Lin SJ. Lee HH, et al. Among authors: tsai fj. Mol Genet Metab. 2008 Apr;93(4):450-7. doi: 10.1016/j.ymgme.2007.10.008. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18039588

7

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review.

Chen CP, Lin SP, Tsai FJ, Wang TH, Chern SR, Wang W. Chen CP, et al. Among authors: tsai fj. Fertil Steril. 2008 Oct;90(4):1198.e11-8. doi: 10.1016/j.fertnstert.2007.11.065. Epub 2008 Mar 4. Fertil Steril. 2008. PMID: 18304539 Free article. Review.

8

Gene symbol: GLA. Disease: Fabry disease.

Lin WD, Hwu WL, Liu SC, Tsai FJ. Lin WD, et al. Among authors: tsai fj. Hum Genet. 2008 Feb;123(1):107. Hum Genet. 2008. PMID: 18386338 No abstract available.

9

Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.

Lin WD, Hwu WL, Liu SC, Chen CP, Tsai FJ. Lin WD, et al. Among authors: tsai fj. Hum Genet. 2007 Sep;122(2):212. Hum Genet. 2007. PMID: 18386366 No abstract available.

10

Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1.

Lin WD, Lin SP, Chen CP, Tsai FJ. Lin WD, et al. Among authors: tsai fj. Hum Genet. 2007 Sep;122(2):212. Hum Genet. 2007. PMID: 18386367 No abstract available.

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