These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
151 related articles for article (PubMed ID: 31703126)
1. [Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province]. Su R; Zhu L; Lin Y; Zhu J; Zheng F; Fu Q Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1062-1066. PubMed ID: 31703126 [TBL] [Abstract][Full Text] [Related]
2. [Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan]. Zhao D; Li X; Jia C; Ni M; Kong X Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun; 33(3):300-5. PubMed ID: 27264808 [TBL] [Abstract][Full Text] [Related]
3. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. Zhang Z; Gao JJ; Feng Y; Zhu LL; Yan H; Shi XF; Chang AM; Shi Y; Wang P Scand J Clin Lab Invest; 2018 May; 78(3):211-218. PubMed ID: 29390883 [TBL] [Abstract][Full Text] [Related]
4. [Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province]. Lu Q; Liu Y; Yang B; Xie K; Zou Y; Lu W; Wang F Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1057-1061. PubMed ID: 31703125 [TBL] [Abstract][Full Text] [Related]
5. [Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. Zhang JJ; Sun Y; Sun YJ; Huang ML; Zhang J; Liang XW; Jiang T; Xu ZF Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Oct; 30(5):513-7. PubMed ID: 24078561 [TBL] [Abstract][Full Text] [Related]
6. The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene. Kuznetcova I; Gundorova P; Ryzhkova O; Polyakov A Metab Brain Dis; 2019 Dec; 34(6):1547-1555. PubMed ID: 31332730 [TBL] [Abstract][Full Text] [Related]
7. Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population. Lin Y; Lin W; Su R; Zheng Z; Fu Q; Wang G Clin Chim Acta; 2022 Oct; 535():13-18. PubMed ID: 35952926 [TBL] [Abstract][Full Text] [Related]
8. 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 Hum Mutat; 2001; 18(1):83. PubMed ID: 11438997 [TBL] [Abstract][Full Text] [Related]
9. [Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian]. Zhu W; Chen H; Su Y; Zhao H; Wang J; Zhou J; Chen Y; Zen Y; Lin F; Zhang H Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr; 32(2):158-62. PubMed ID: 25863076 [TBL] [Abstract][Full Text] [Related]
10. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province. Tao Y; Han D; Shen H; Li X Brain Dev; 2021 Feb; 43(2):220-229. PubMed ID: 32893076 [TBL] [Abstract][Full Text] [Related]
12. Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. Chen T; Xu W; Wu D; Han J; Zhu L; Tong F; Yang R; Zhao Z; Jiang P; Shu Q Sci Rep; 2018 Nov; 8(1):17137. PubMed ID: 30459323 [TBL] [Abstract][Full Text] [Related]
13. Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran. Nezhad SRK; Aligoodarzi PN; Rostami G; Shariati G; Galehdari H; Saberi A; Sedaghat A; Hamid M Mol Genet Genomic Med; 2024 Jan; 12(1):e2294. PubMed ID: 37818795 [TBL] [Abstract][Full Text] [Related]
14. [Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province]. Yan YS; Wang Z; Hao SJ; Meng Y; Zheng L; Huang SZ Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):419-22. PubMed ID: 20017307 [TBL] [Abstract][Full Text] [Related]
15. [Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province]. Chen C; Zhao Z; Ren Y; Kong X Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):791-795. PubMed ID: 30512147 [TBL] [Abstract][Full Text] [Related]
16. [Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province]. Li H; Li Y; Zhang L Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):361-364. PubMed ID: 28604955 [TBL] [Abstract][Full Text] [Related]
17. [Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients]. Qu YJ; Song F; Wang H; Jin YW Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Dec; 23(6):680-2. PubMed ID: 17160954 [TBL] [Abstract][Full Text] [Related]
18. Molecular and metabolic bases of tetrahydrobiopterin (BH Himmelreich N; Blau N; Thöny B Mol Genet Metab; 2021 Jun; 133(2):123-136. PubMed ID: 33903016 [TBL] [Abstract][Full Text] [Related]
19. A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review. Ghanei M; Sadat Fatemi SH; Hamzehlouei T Hum Hered; 2023; 88(1):8-17. PubMed ID: 36646061 [TBL] [Abstract][Full Text] [Related]
20. Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing. Cao YY; Qu YJ; Song F; Zhang T; Bai JL; Jin YW; Wang H Mol Genet Metab; 2014 Dec; 113(4):261-6. PubMed ID: 25456745 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]