Liu TT - Search Results

1

Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese.

Chen SH, Hsiao KJ, Lin LH, Liu TT, Tang RB, Su TS. Chen SH, et al. Among authors: liu tt. Hum Genet. 1989 Feb;81(3):226-30. doi: 10.1007/BF00278993. Hum Genet. 1989. PMID: 2563988

2

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

Liu TT, Hsiao KJ. Liu TT, et al. Hum Genet. 1996 Sep;98(3):313-6. doi: 10.1007/s004390050213. Hum Genet. 1996. PMID: 8707300

3

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

Liu TT, Hsiao KJ, Lu SF, Wu SJ, Wu KF, Chiang SH, Liu XQ, Chen RG, Yu WM. Liu TT, et al. Among authors: liu xq. Hum Mutat. 1998;11(1):76-83. doi: 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W. Hum Mutat. 1998. PMID: 9450907

4

Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

Liu TT, Chang YH, Chiang SH, Yang YL, Yu WM, Hsiao KJ. Liu TT, et al. Hum Mutat. 2001;18(1):83. doi: 10.1002/humu.1153. Hum Mutat. 2001. PMID: 11438997

5

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ. Chen CH, et al. Among authors: liu tt, liu hl. J Hum Genet. 2002;47(2):66-73. doi: 10.1007/s100380200002. J Hum Genet. 2002. PMID: 11916004

6

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T. Lu YB, et al. Among authors: liu tt. J Hum Genet. 2005;50(7):338-346. doi: 10.1007/s10038-005-0262-8. Epub 2005 Jul 30. J Hum Genet. 2005. PMID: 16059747

7

Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

Lee NC, Cheng LY, Liu TT, Hsiao KJ, Chiu PC, Niu DM. Lee NC, et al. Among authors: liu tt. Mol Genet Metab. 2006 Feb;87(2):128-34. doi: 10.1016/j.ymgme.2005.09.028. Epub 2005 Dec 20. Mol Genet Metab. 2006. PMID: 16364672

8

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, Qi Y, Hsiao KJ, Liu TT. Liu MY, et al. Among authors: liu tt. J Hum Genet. 2010 Sep;55(9):621-6. doi: 10.1038/jhg.2010.81. Epub 2010 Jul 15. J Hum Genet. 2010. PMID: 20631720

9

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT. Chiu YH, et al. Among authors: liu tt. J Hum Genet. 2012 Feb;57(2):145-52. doi: 10.1038/jhg.2011.146. Epub 2012 Jan 12. J Hum Genet. 2012. PMID: 22237589

10

Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.

Liu TT, Chiang SH, Wu SJ, Hsiao KJ. Liu TT, et al. Clin Chim Acta. 2001 Nov;313(1-2):157-69. doi: 10.1016/s0009-8981(01)00669-6. Clin Chim Acta. 2001. PMID: 11694255

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