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Items: 1 to 20 of 40

1.
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, Lourdes R Desviat
Hum Mol Genet. 2024 Jun 15; 33(12): 1074–1089. Published online 2024 Mar 23. doi: 10.1093/hmg/ddae051
PMCID:
PMC11153335
AbstractArticlePDF–2.3M
2.
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L’Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Int J Mol Sci. 2024 Jan; 25(1): 495. Published online 2023 Dec 29. doi: 10.3390/ijms25010495
PMCID:
PMC10778870
AbstractArticlePDF–2.5M
3.
Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran
Seyed Reza Kazemi Nezhad, Pegah Namdar Aligoodarzi, Golale Rostami, Gholamreza Shariati, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Mohammad Hamid
Mol Genet Genomic Med. 2024 Jan; 12(1): e2294. Published online 2023 Oct 11. doi: 10.1002/mgg3.2294
PMCID:
PMC10767420
AbstractArticlePDF–640K
4.
新生儿筛查确诊苯丙氨酸羟化酶缺乏症患者基因变异及长期随访分析
孙 萌, 李 育霖, 李 盼盼, 李 改杰, 闫 妍, 邹 卉
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 701–706. Chinese. Published online 2023 Dec 7. doi: 10.3724/zdxbyxb-2023-0450
PMCID:
PMC10764183
AbstractArticlePDF–711K
5.
Allelic phenotype prediction of phenylketonuria based on the machine learning method
Yang Fang, Jinshuang Gao, Yaqing Guo, Xiaole Li, Enwu Yuan, Erfeng Yuan, Liying Song, Qianqian Shi, Haiyang Yu, Dehua Zhao, Linlin Zhang
Hum Genomics. 2023; 17: 34. Published online 2023 Mar 31. doi: 10.1186/s40246-023-00481-9
PMCID:
PMC10064562
AbstractArticlePDF–1.5M
6.
Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report
Hua Li, Hua Yang, Min Li, Li Liang, Haojing Zhu, Anan Chen, Hairong Qian
BMC Neurol. 2022; 22: 409. Published online 2022 Nov 4. doi: 10.1186/s12883-022-02946-1
PMCID:
PMC9635091
AbstractArticlePDF–1.0M
7.
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
Jinfu Zhou, Yinglin Zeng, Xiaolong Qiu, Qingying Lin, Weifeng Chen, Jinying Luo, Liangpu Xu
Mol Biol Rep. 2022; 49(11): 10409–10419. Published online 2022 Sep 14. doi: 10.1007/s11033-022-07579-8
PMCID:
PMC9618490
AbstractArticlePDF–629K
8.
Genetic etiology and clinical challenges of phenylketonuria
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara
Hum Genomics. 2022; 16: 22. Published online 2022 Jul 19. doi: 10.1186/s40246-022-00398-9
PMCID:
PMC9295449
AbstractArticlePDF–1.5M
9.
Management precautions for risk of obesity are necessary among infants with PKU carrying the rs113883650 variant of the LAT1 gene: A cross-sectional study
Miroslaw Bik-Multanowski, Bozena Didycz, Kinga Bik-Multanowska
PLoS One. 2022; 17(2): e0264084. Published online 2022 Feb 17. doi: 10.1371/journal.pone.0264084
PMCID:
PMC8853486
AbstractArticlePDF–1.0M
10.
苯丙氨酸羟化酶基因 c.158G>A(p.Arg53His)突变患儿随访及突变位点功能评估
Jie WANG, Bo ZHU, Lichun ZHANG, Yitong ZHAO, Xiaohua WANG, Yueqi JIA
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug; 50(4): 444–453. Chinese. doi: 10.3724/zdxbyxb-2021-0256
PMCID:
PMC8714477
AbstractArticlePDF–5.2M
11.
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Isabel Ibarra-González, Ariadna González-del Angel, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Leticia Belmont-Martínez, Cynthia Fernández-Lainez
Genes (Basel) 2021 Nov; 12(11): 1676. Published online 2021 Oct 23. doi: 10.3390/genes12111676
PMCID:
PMC8620669
AbstractArticlePDF–2.3M
12.
Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia
Mengting Li, Qi Yang, Sheng Yi, Zailong Qin, Jingsi Luo, Xin Fan
Mol Genet Genomic Med. 2020 Aug; 8(8): e1303. Published online 2020 Jun 10. doi: 10.1002/mgg3.1303
PMCID:
PMC7434608
AbstractArticlePDF–946K
13.
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana E. Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat, Aviva Eliyahu, Roeland A.F. Evers, Lena Fajkusova, François Feillet, Pedro E. Bonfim-Freitas, Maria Giżewska, Polina Gundorova, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter-Konecki, Ania C. Muntau, Fares Namour, Mariusz Oltarzewski, Andrea Paras, Belen Perez, Emil Polak, Alexander V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl-Bürgi, Norma Spécola, Maja Stojiljković, Nan Shen, Luiz C. Santana-da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade, Nenad Blau
Am J Hum Genet. 2020 Aug 6; 107(2): 234–250. Published online 2020 Jul 14. doi: 10.1016/j.ajhg.2020.06.006
PMCID:
PMC7413859
AbstractArticlePDF–2.0M
14.
幼儿发育落后间断抽搐8个月
丁 圆, 李 溪远, 刘 玉鹏, 李 东晓, 宋 金青, 李 梦秋, 秦 亚萍, 吴 桐菲, 杨 艳玲
Zhongguo Dang Dai Er Ke Za Zhi. 2016 Jan 15; 18(1): 67–71. Chinese. doi: 10.7499/j.issn.1008-8830.2016.01.014
PMCID:
PMC7390091
AbstractArticlePDF–1.2M
15.
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China
Long Li, Yulan Qin, Yajie Su, Haili Jiang, Nuerya Rejiafu, Mingzhu Li, Ayijiamali Muhetaer, Yongqiao Liu, Yan Ren
J Clin Lab Anal. 2019 Feb; 33(2): e22665. Published online 2018 Sep 17. doi: 10.1002/jcla.22665
PMCID:
PMC6818561
AbstractArticlePDF–909K
16.
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase
Martina Pecimonova, Daniela Kluckova, Frantisek Csicsay, Kamila Reblova, Jan Krahulec, Dagmar Procházkova, Ludovit Skultety, Ludevit Kadasi, Andrea Soltysova
Genes (Basel) 2019 Jun; 10(6): 459. Published online 2019 Jun 15. doi: 10.3390/genes10060459
PMCID:
PMC6628251
AbstractArticlePDF–1008K
17.
Genotype‐phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil
Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Isaura Ribeiro, Alexandre Seabra, Nicole Mineiro, Lilian M. Carvalho, Lúcia Lacerda, Márcia G. Ribeiro
Mol Genet Genomic Med. 2019 May; 7(5): e610. Published online 2019 Mar 3. doi: 10.1002/mgg3.610
PMCID:
PMC6503030
AbstractArticlePDF–787K
18.
Phenylketonuria Diet Promotes Shifts in Firmicutes Populations
Giulia Bassanini, Camilla Ceccarani, Francesca Borgo, Marco Severgnini, Valentina Rovelli, Giulia Morace, Elvira Verduci, Elisa Borghi
Front Cell Infect Microbiol. 2019; 9: 101. Published online 2019 Apr 16. doi: 10.3389/fcimb.2019.00101
PMCID:
PMC6477998
AbstractArticlePDF–2.0M
19.
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
Ting Chen, Weize Xu, Dingwen Wu, Jiamin Han, Ling Zhu, Fan Tong, Rulai Yang, Zhengyan Zhao, Pingping Jiang, Qiang Shu
Sci Rep. 2018; 8: 17137. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35373-9
PMCID:
PMC6244417
AbstractArticlePDF–1.2M
20.
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis
Danielle Veenma, Dawn Cordeiro, Neal Sondheimer, Saadet Mercimek-Andrews
Eur J Hum Genet. 2018 Dec; 26(12): 1867–1870. Published online 2018 Aug 23. doi: 10.1038/s41431-018-0237-9
PMCID:
PMC6244406
AbstractArticlePDF–364K

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