Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Counseling and PAH[original query] |
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| Phenylketonuria mutations in Northern China. Molecular genetics and metabolism 2005 Dec 86 Suppl 1 (): S107-18. Song Fang, Qu Yu-jin, Zhang Ting, Jin Yu-wei, Wang Hong, Zheng Xiao-yi |
| [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2008 Feb 46 (2): 115-9. Qu Yu-jin, Song Fang, Jin Yu-wei, Wang Hong, Zhang Yu-min, Qin Jin-li, Qiu L |
| [Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 Feb 27 (1): 7-12. Song Li, Dang Liheng, Meng Yingtao, Fu Boji |
| [The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 Dec 27 (6): 644-9. Wang Feng-yu, Shao Chu-jun, Feng Hui-gen, Li Cong-m |
| [Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2011 Apr 28 (2): 142-6. GUO Hong-jun, ZHAO Zhen-hua, JIANG Miao, SHI Hui-rong, KONG Xiang-do |
| BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension. Circulation. Cardiovascular genetics 2012 Oct 5 (5): 511-8. Liu Dong, Wu Wen-Hui, Mao Yi-Min, Yuan Ping, Zhang Rui, Ju Feng-Ling, Jing Zhi-Che |
| Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco. Genetic testing and molecular biomarkers 2012 Aug 16 (8): 996-8. Lamzouri Afaf, Ratbi Ilham, Laarabi Fatima Z, Barkat Amina, Sefiani Abdelaz |
| [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2012 Dec 29 (6): 635-41. Shu Jian-bo, Meng Ying-tao, Dang Li-heng, Fu Bo-jing, Song |
| A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria. World journal of pediatrics : WJP 2015 May 11 (2): 181-4. Maruo Yoshihiro, Suzaki Masafumi, Matsui Katsuyuki, Mimura Yu, Mori Asami, Shintaku Haruo, Takeuchi Yoshihi |
| Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China. International journal of clinical and experimental medicine 2014 7 (11): 4406-12. Yu Wuzhong, He Jiang, Yang Xi, Zou Hongyun, Gui Junhao, Wang Rui, Yang Liu, Wang Zheng, Lei Qu |
| PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population. The Kaohsiung journal of medical sciences 2018 Feb 34 (2): 89-94. Wang Zhen-Wen, Jiang Shi-Wen, Zhou Bao-Che |
| Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China. Clinica chimica acta; international journal of clinical chemistry 2019 8 498 161-166. Wang Xudong, He Ying, Jiang Yancheng, Feng Xiaomei, Zhang Guowang, Xia Zhongmin, Zhou Yul |
| Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. Frontiers in genetics 2019 11 10 1052. Wang Ting, Ma Jun, Zhang Qin, Gao Ang, Wang Qi, Li Hong, Xiang Jingjing, Wang Benji |
| Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province. Brain & development 2020 Sep . Tao Yilun, Han Dong, Shen Huiyi, Li Xiao |
| Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China. Molecular biology reports 2022 Sep . Zhou Jinfu, Zeng Yinglin, Qiu Xiaolong, Lin Qingying, Chen Weifeng, Luo Jinying, Xu Liang |
| An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey. Journal of pediatric endocrinology & metabolism : JPEM 2022 4 35 (5): 663-668. Ozturk Fatma Nihal, Akin Duman Tug |
| Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province. Frontiers in genetics 2022 12 13 1077729. Xie Kang, Zeng Baitao, Zhang Liuyang, Chen Shaohong, Zou Yongyi, Yuan Huizhen, Huang Shuhui, Wang Feng, Lu Qing, Liu Yanqiu, Yang Biche |
| Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran. Clinical laboratory 2022 1 68 (1): . Hosseini Elaheh, Mousavi Seyed S, Zamanfar Daniel, Hashemi-Soteh S M Bagh |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International journal of molecular sciences 2024 5 25 (9): . Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey V Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchen |
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