Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 139 Records) |
Query Trace: Phenylketonuria[original query] |
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Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria. Molecular genetics and metabolism reports 2020 9 25 100640. Bik-Multanowski Miroslaw, Madetko-Talowska Anna, Betka Iwona, Swieczka Elzbieta, Didycz Bozena, Orchel-Szastak Karolina, Bik-Multanowska Kinga, Starostecka Ewa, Jaglowska Joanna, Mozrzymas Renata, Zolkowska Joanna, Chyz Katarzyna, Korycinska-Chaaban Doro |
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. Journal of personalized medicine 2020 9 10 (3): . Kiseleva Anna V, Klimushina Marina V, Sotnikova Evgeniia A, Divashuk Mikhail G, Ershova Alexandra I, Skirko Olga P, Kurilova Olga V, Zharikova Anastasia A, Khlebus Eleonora Yu, Efimova Irina A, Pokrovskaya Maria S, Slominsky Petr A, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. Human mutation 2020 4 41 (7): 1329-1338. Gallego Diana, Leal Fátima, Gámez Alejandra, Castro Margarita, Navarrete Rosa, Sanchez-Lijarcio Obdulia, Vitoria Isidro, Bueno-Delgado María, Belanger-Quintana Amaya, Morais Ana, Pedrón-Giner Consuelo, García Inmaculada, Campistol Jaume, Artuch Rafael, Alcaide Carlos, Cornejo Veronica, Gil David, Yahyaoui Raquel, Desviat Lourdes R, Ugarte Magdalena, Martínez Aurora, Pérez Bel |
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases. Frontiers in genetics 2021 8 12 719437. Pajusalu Sander, Vals Mari-Anne, Mihkla Laura, Šamarina Ustina, Kahre Tiina, Õunap Katr |
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population. Frontiers in genetics 2021 8 12 631688. Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R |
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing. Human mutation 2021 7 42 (10): 1229-1238. Tran Ngoc Hieu, Nguyen Thi Thanh-Huong, Tang Hung-Sang, Hoang Le-Phuc, Nguyen Trung-Hieu Le, Tran Nhat-Thang, Trinh Thu-Huong Nhat, Nguyen Van Thong, Nguyen Bao-Han Huu, Nguyen Hieu Trong, Doan Loc Phuoc, Phan Ngoc-Minh, Nguyen Kim-Huong Thi, Nguyen Hong-Dang Luu, Quach Minh-Tam Thi, Nguyen Thanh-Phuong Thi, Tran Vu Uyen, Tran Dinh-Vinh, Nguyen Quynh-Tho Thi, Do Thanh-Thuy Thi, Lam Nien Vinh, Cao Thi Ngoc Phuong, Truong Dinh Kiet, Nguyen Hoai-Nghia, Phan Minh-Duy, Giang H |
BH4-deficient hyperphenylalaninemia in Russia. PloS one 2021 4 16 (4): e0249608. Gundorova Polina, Kuznetcova Irina A, Baydakova Galina V, Stepanova Anna A, Itkis Yulia S, Kakaulina Victoria S, Alferova Irina P, Lyazina Lidya V, Andreeva Lilya P, Kanivets Ilya, Zakharova Ekaterina Y, Kutsev Sergey I, Polyakov Aleksander |
Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants. Molecular biology reports 2021 3 48 (3): 2063-2070. Ngiwsara Lukana, Vatanavicharn Nithiwat, Sawangareetrakul Phannee, Liammongkolkul Somporn, Ratanarak Pisanu, Boonyawat Boonchai, Srisomsap Chantragan, Champattanachai Voraratt, Ketudat-Cairns James, Wasant Pornswan, Svasti Jisnus |
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria. Journal of pediatric endocrinology & metabolism : JPEM 2021 2 33 (12): 1519-1523. Porta Francesco, Giorda Sara, Ponzone Alberto, Spada Mar |
Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology. Bioscience reports 2021 2 41 (2): . Qiang Rong, Wang Lin, He JinHua, Xu Wei Jie, Li Wei, Cai Na, Wang Xiao Bin, Zhang RuiXue, Zhang Li Ping, Ma Xiao Ping, Wei Chen, Song ChengRong, Yu WenWen, Wang Xiang, Li |
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations. Genes 2021 11 12 (11): . Vela-Amieva Marcela, Alcántara-Ortigoza Miguel Angel, Ibarra-González Isabel, González-Del Angel Ariadna, Fernández-Hernández Liliana, Guillén-López Sara, López-Mejía Lizbeth, Carrillo-Nieto Rosa Itzel, Belmont-Martínez Leticia, Fernández-Lainez Cynth |
Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 10 50 (4): 444-453. Wang Jie, Zhu Bo, Zhang Lichun, Zhao Yitong, Wang Xiaohua, Jia Yue |
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 |
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases. Journal of personalized medicine 2022 7 12 (7): . Sotnikova Evgeniia A, Kiseleva Anna V, Kutsenko Vladimir A, Zharikova Anastasia A, Ramensky Vasily E, Divashuk Mikhail G, Vyatkin Yuri V, Klimushina Marina V, Ershova Alexandra I, Revazyan Karina Z, Skirko Olga P, Zaicenoka Marija, Efimova Irina A, Pokrovskaya Maria S, Kopylova Oksana V, Glechan Anush M, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
Identification of phenylketonuria patient genotypes using single-gene full-length sequencing. Human genomics 2022 7 16 (1): 23. Gao Jinshuang, Li Xiaole, Guo Yaqing, Yu Haiyang, Song Liying, Fang Yang, Yuan Erfeng, Shi Qianqian, Zhao Dehua, Yuan Enwu, Zhang Linl |
Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes. European journal of medical genetics 2022 6 65 (9): 104536. Khaghani Faeze, Eshraghi Peyman, Hamzehloei Tayeb |
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 |
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey. Journal of pediatric endocrinology & metabolism : JPEM 2022 3 35 (5): 639-647. Ç?nar Müge, K?l?ç Y?ld?r?m Gonca, Kocagil Sinem, Çilingir O? |
[Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 3 39 (3): 269-275. Xu Xilin, He Wenbin, Wang Ying, Gong Fei, Lu Guangxiu, Lin Ge, Tan Yueqiu, Du Ju |
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 |
Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City. Discovery medicine 2023 8 35 (177): 533-538. Xinyou Yu, Fang Liu, Bo Wei, Meijuan Li, Ruiping Lu, Lihua P |
Mutational landscape of phenylketonuria in Iran. Journal of cellular and molecular medicine 2023 8 . Naser Ajami, Anvar Soleimani, Reza Jafarzadeh-Esfehani, Mojtaba Hasanpour, Romina Rashid Shomali, Mohammad Reza Abbaszadeg |
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo H-NMR Analysis. Molecules (Basel, Switzerland) 2023 7 28 (13): . Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, Peter Freisinger, Manfred Spraul, Nastassja Himmelreich, Musa Kockaya, Kirsten Ahring, Markus Godejohann, Anita MacDonald, Friedrich Tre |
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing. Orphanet journal of rare diseases 2023 5 18 (1): 128. Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu |
PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania. Diagnostics (Basel, Switzerland) 2023 5 13 (8): . Alin Iuhas, Claudia Jurca, Kinga Kozma, Anca-Lelia Riza, Ioana Strea??, Codru?a Petche?i, Andra Dan, Cristian Sava, Andreea Balmo?, Cristian Marin?u, Larisa Niula?, Mihai Ioana, Marius Bemb |
Clinical application value of expanded carrier screening in the population of childbearing age. European journal of medical research 2023 4 28 (1): 151. Fang Yuqin, Li Jingran, Zhang Miaomiao, Cheng Yuan, Wang Chaohong, Zhu Jianshe |
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia. The Journal of molecular diagnostics : JMD 2023 2 . Luo Xiaomei, Wang Ruifang, Sun Yu, Qiu Wenjuan, Lu Deyun, Wang Yu, Gong Zhuwen, Zhang Huiwen, Han Lianshu, Liang Lili, Gu Xuefan, Yu Yongguo, Xiao Bi |
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023 12 1-10. Duo Zhou, Rulai Yang, Xinwen Huang, Xiaolei Huang, Xin Yang, Huaqing Mao, Jianbin Yang, Zhengyan Zh |
Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with Phenylketonuria. Iranian biomedical journal 2023 1 27 (1): 46-57. Namdar Aligoodarzi Pegah, Rostami Golale, Kazemi Nezhad Seyed Reza, Hamid Mohamm |
The Impact of IL1B rs1143634 and DEFB1 rs11362 Variants on Periodontitis Risk in Phenylketonuria and Type 1 Diabetes Mellitus Patients in a Latvian Population. Diagnostics (Basel, Switzerland) 2024 1 14 (2): . Darta Elizabete Emulina, Iveta Abola, Anda Brinkmane, Aleksejs Isakovs, Ingus Skadins, Georgijs Moisejevs, Linda Gailite, Madara Auzenba |
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- Page last updated:Apr 16, 2024
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