HuGE Literature Finder
Rare Disease
Records 1-30
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Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
Metabolic brain disease 2019 Feb . Yan Yousheng, Zhang Chuan, Jin Xiaohua, Zhang Qinhua, Zheng Lei, Feng Xuan, Hao Shengju, Gao Huafang, Ma |
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Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.
PloS one 2019 14 (1): e0211048. Gundorova Polina, Stepanova Anna A, Kuznetsova Irina A, Kutsev Sergey I, Polyakov Aleksander |
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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Scientific reports 2018 Nov 8 (1): 17137. Chen Ting, Xu Weize, Wu Dingwen, Han Jiamin, Zhu Ling, Tong Fan, Yang Rulai, Zhao Zhengyan, Jiang Pingping, Shu Qia |
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A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients.
European journal of medical genetics 2018 Oct . Esfahani Maryam Shaykholeslam, Vallian Sad |
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Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul . Garbade Sven F, Shen Nan, Himmelreich Nastassja, Haas Dorothea, Trefz Friedrich K, Hoffmann Georg F, Burgard Peter, Blau Nen |
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Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
Scientific reports 2018 Jul 8 (1): 11251. Li Nana, He Chunhua, Li Jing, Tao Jing, Liu Zhen, Zhang Chunyan, Yuan Yuan, Jiang Hui, Zhu Jun, Deng Ying, Guo Yixiong, Li Qintong, Yu Ping, Wang Yanpi |
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Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles.
Iranian journal of medical sciences 2018 May 43 (3): 318-323. Alibakhshi Reza, Moradi Keivan, Biglari Mostafa, Shafieenia Saman |
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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 |
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Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China.
Journal of pediatric endocrinology & metabolism : JPEM 2017 Nov 30 (12): 1305-1310. Wang Lin, Wang Xiaobin, He Bin, Cai Na, Li Wei, Lou Chao, Xin Shuwen, Wu Qiuhua, Yu Wenwen, Qiang Ro |
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Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Metabolic brain disease 2017 Jul . Razipour Masoumeh, Alavinejad Elaheh, Sajedi Seyede Zahra, Talebi Saeed, Entezam Mona, Mohajer Neda, Kazemi-Sefat Golnaz-Ensieh, Gharesouran Jalal, Setoodeh Aria, Mohaddes Ardebili Seyyed Mojtaba, Keramatipour Mohamm |
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Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.
International journal of preventive medicine 2017 8 89. Zamanfar Daniel, Jalali Hossein, Mahdavi Mohammad Reza, Maadanisani Morteza, Zaeri Hossein, Asadpoor Eynoll |
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Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
Pediatrics international : official journal of the Japan Pediatric Society 2016 May 58 (5): 431-3. Dateki Sumito, Watanabe Satoshi, Nakatomi Akiko, Kinoshita Eiichi, Matsumoto Tadashi, Yoshiura Koh-Ichiro, Moriuchi Hiroyu |
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Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Journal of human genetics 2016 Apr . Aldámiz-Echevarría Luis, Llarena Marta, Bueno María A, Dalmau Jaime, Vitoria Isidro, Fernández-Marmiesse Ana, Andrade Fernando, Blasco Javier, Alcalde Carlos, Gil David, García María C, González-Lamuño Domingo, Ruiz Mónica, Ruiz María A, Peña-Quintana Luis, González David, Sánchez-Valverde Felix, Desviat Lourdes R, Pérez Belen, Couce María |
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A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.
Journal of medical genetics 2016 Feb . North Teri-Louise, Ben-Shlomo Yoav, Cooper Cyrus, Deary Ian J, Gallacher John, Kivimaki Mika, Kumari Meena, Martin Richard M, Pattie Alison, Sayer Avan Aihie, Starr John M, Wong Andrew, Kuh Diana, Rodriguez Santiago, Day Ian N |
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Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection.
Clinical laboratory 2016 62 (3): 311-6. Silawi Mohammad, Haqparast Somayyeh, Tabei Seyed Mohammad Bagh |
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Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
Clinical genetics 2015 Nov . Bayat Allan, Yasmeen Saiqa, Lund Allan, Nielsen Jytte Bieber, Møller Lisbeth Bi |
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A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.
Gene 2015 Oct . Britschgi Corinne, Iorgulescu Daniela, Mager Monica Alina, Anton-Paduraru Dana, Vulturar Romana, Thöny Be |
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Mutational spectrum of phenylketonuria in Jiangsu province.
European journal of pediatrics 2015 Oct 174 (10): 1333-8. Chen Ya-Fen, Jia Hai-Tao, Chen Zhong-Hai, Song Jia-Ping, Liang Yu, Pei Jing-Jing, Wu Zhi-Jun, Wang Jing, Qiu Ya-Li, Liu Gang, Sun Dong-Mei, Jiang Xin- |
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Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.
Maedica 2015 Sep 10 (4): 310-314. Morteza Bagheri, Isa Abdi Rad, Nima Hosseini Jazani, Rasoul Zarrin, Ahad Ghaza |
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Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Pediatric research 2015 Aug . Tao Jing, Li Nana, Jia Haitao, Liu Zhen, Li Xiaohong, Song Jiaping, Deng Ying, Jin Xi, Zhu J |
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Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.
Iranian journal of basic medical sciences 2015 Jul 18 (7): 649-53. Bagheri Morteza, Rad Isa Abdi, Jazani Nima Hosseini, Zarrin Rasoul, Ghazavi Ah |
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6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype.
Molecular genetics and metabolism 2015 May 115 (1): 10-6. Aldámiz-Echevarría Luis, Bueno María A, Couce María L, Lage Sergio, Dalmau Jaime, Vitoria Isidro, Llarena Marta, Andrade Fernando, Blasco Javier, Alcalde Carlos, Gil David, García María C, González-Lamuño Domingo, Ruiz Mónica, Ruiz María A, Peña-Quintana Luis, González David, Sánchez-Valverde Fel |
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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 |
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Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
European journal of human genetics : EJHG 2015 Mar 23 (3): 302-9. Wettstein Sarah, Underhaug Jarl, Perez Belen, Marsden Brian D, Yue Wyatt W, Martinez Aurora, Blau Nen |
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Management of adult patients with phenylketonuria: survey results from 24 countries.
European journal of pediatrics 2015 Jan 174 (1): 119-27. Trefz Friedrich K, van Spronsen Francjan J, MacDonald Anita, Feillet François, Muntau Ania C, Belanger-Quintana Amaya, Burlina Alberto, Demirkol Mübeccel, Giovannini Marcello, Gasteyger Christo |
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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Orphanet journal of rare diseases 2015 10 (1): 158. Jeannesson-Thivisol Elise, Feillet François, Chéry Céline, Perrin Pascal, Battaglia-Hsu Shyue-Fang, Herbeth Bernard, Cano Aline, Barth Magalie, Fouilhoux Alain, Mention Karine, Labarthe François, Arnoux Jean-Baptiste, Maillot François, Lenaerts Catherine, Dumesnil Cécile, Wagner Kathy, Terral Daniel, Broué Pierre, de Parscau Loïc, Gay Claire, Kuster Alice, Bédu Antoine, Besson Gérard, Lamireau Delphine, Odent Sylvie, Masurel Alice, Guéant Jean-Louis, Namour Far |
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Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.
Iranian biomedical journal 2015 19 (3): 183-7. Bagheri Morteza, Abdi Rad Isa, Hosseini Jazani Nima, Zarrin Rasoul, Ghazavi Ah |
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Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.
SpringerPlus 2015 4 542. Biglari Alireza, Saffari Fatemeh, Rashvand Zahra, Alizadeh Safarali, Najafipour Reza, Sahmani Meh |
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[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2014 Dec 31 (6): 686-92. Yan Yousheng, Hao Shengju, Yao Fengxia, Sun Qingmei, Zheng Lei, Zhang Qinghua, Zhang Chuan, Yang Tao, Huang Shangz |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Apr 08, 2021
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