17502162 14722928 10527663 26600521 25894915 16176881 26503515 24401910 26322415[uid] - Search Results

Year	Number of Results
1999	1
2004	1
2005	1
2007	1
2014	1
2015	4
2024	0

1

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.

Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL. Dobrowolski SF, et al. Mol Genet Metab. 2007 Jul;91(3):218-27. doi: 10.1016/j.ymgme.2007.03.010. Epub 2007 May 14. Mol Genet Metab. 2007. PMID: 17502162

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

The structural basis of phenylketonuria.

Erlandsen H, Stevens RC. Erlandsen H, et al. Mol Genet Metab. 1999 Oct;68(2):103-25. doi: 10.1006/mgme.1999.2922. Mol Genet Metab. 1999. PMID: 10527663 Review.

4

Prenatal diagnosis of Chinese families with phenylketonuria.

Liu N, Kong XD, Zhao DH, Wu QH, Li XL, Guo HF, Cui LX, Jiang M, Shi HR. Liu N, et al. Genet Mol Res. 2015 Nov 19;14(4):14615-28. doi: 10.4238/2015.November.18.25. Genet Mol Res. 2015. PMID: 26600521 Free article.

5

Mutational spectrum of phenylketonuria in Jiangsu province.

Chen YF, Jia HT, Chen ZH, Song JP, Liang Y, Pei JJ, Wu ZJ, Wang J, Qiu YL, Liu G, Sun DM, Jiang XY. Chen YF, et al. Eur J Pediatr. 2015 Oct;174(10):1333-8. doi: 10.1007/s00431-015-2539-z. Epub 2015 Apr 19. Eur J Pediatr. 2015. PMID: 25894915

6

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.

Møller LB, Paulsen M, Koch R, Moats R, Guldberg P, Güttler F. Møller LB, et al. Mol Genet Metab. 2005 Dec;86 Suppl 1:S119-23. doi: 10.1016/j.ymgme.2005.07.031. Epub 2005 Sep 19. Mol Genet Metab. 2005. PMID: 16176881

7

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Li N, Jia H, Liu Z, Tao J, Chen S, Li X, Deng Y, Jin X, Song J, Zhang L, Liang Y, Wang W, Zhu J. Li N, et al. Sci Rep. 2015 Oct 27;5:15769. doi: 10.1038/srep15769. Sci Rep. 2015. PMID: 26503515 Free PMC article.

8

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

Liang Y, Huang MZ, Cheng CY, Chao HK, Fwu VT, Chiang SH, Hsiao KJ, Niu DM, Su TS. Liang Y, et al. J Hum Genet. 2014 Mar;59(3):145-52. doi: 10.1038/jhg.2013.136. Epub 2014 Jan 9. J Hum Genet. 2014. PMID: 24401910

9

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Tao J, Li N, Jia H, Liu Z, Li X, Song J, Deng Y, Jin X, Zhu J. Tao J, et al. Pediatr Res. 2015 Dec;78(6):691-9. doi: 10.1038/pr.2015.167. Epub 2015 Aug 31. Pediatr Res. 2015. PMID: 26322415 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

9 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year