| Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Turkiye. | Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.
Alavanda C, Ceylan Eİ, Kılavuz S, Çıkı K. | 07/9/2024 |
| Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. | Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Tebieva IS, Mishakova PV, Gabisova YV, Khokhova AV, Kaloeva TG, Marakhonov AV, Shchagina OA, Polyakov AV, Ginter EK, Kutsev SI, Zinchenko RA., Free PMC Article | 05/31/2024 |
| [In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase]. | [In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase].
Pang YH, Gao XY, Yuan ZY, Huang H, Wang ZQ, Peng L, Li YQ, Liu J, Liu D, Chen GR., Free PMC Article | 03/26/2024 |
| [Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene]. | [Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene].
Yang P, Sun Y, Wang X, Ma D, Wang Y, Zhang Z, Jiang T. | 03/11/2024 |
| Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population. | 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. | 11/2/2023 |
| Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia. | Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.
Luo X, Wang R, Sun Y, Qiu W, Lu D, Wang Y, Gong Z, Zhang H, Han L, Liang L, Gu X, Yu Y, Xiao B. | 08/25/2023 |
| Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing. | Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
Zhang C, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X., Free PMC Article | 08/23/2023 |
| Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City. | Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.
Yu X, Liu F, Wei B, Li M, Lu R, Pan L. | 08/10/2023 |
| Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia. | Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
Balobaid A, Imtiaz F, Ramzan K, Afzal S, AlSayed M. | 06/3/2023 |
| The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. | The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Zhang C, Zhang P, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X., Free PMC Article | 04/28/2023 |
| Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations. | Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations.
Aslan T, Yenenler-Kutlu A, Gerlevik U, Aktuğlu Zeybek AÇ, Kıykım E, Sezerman OU, Birgul Iyison N. | 01/11/2023 |
| Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China. | Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Zhou J, Zeng Y, Qiu X, Lin Q, Chen W, Luo J, Xu L., Free PMC Article | 11/5/2022 |
| Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants. | Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.
Sarodaya N, Tyagi A, Kim HJ, Kang JS, Singh V, Hong SH, Kim WJ, Kim KS, Ramakrishna S., Free PMC Article | 09/3/2022 |
| The pathogenicity classification of PAH gene variants in the Iranian population. | The pathogenicity classification of PAH gene variants in the Iranian population.
Alibakhshi R, Kazeminia M, Moradi K. | 08/27/2022 |
| An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey. | An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey.
Ozturk FN, Akin Duman T. | 05/14/2022 |
| Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey. | Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.
Çınar M, Kılıç Yıldırım G, Kocagil S, Çilingir O. | 05/14/2022 |
| An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations. | An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M, Alcántara-Ortigoza MA, Ibarra-González I, González-Del Angel A, Fernández-Hernández L, Guillén-López S, López-Mejía L, Carrillo-Nieto RI, Belmont-Martínez L, Fernández-Lainez C., Free PMC Article | 02/19/2022 |
| Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review. | Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R, Mohammadi A, Salari N, Khamooshian S, Kazeminia M, Moradi K. | 02/12/2022 |
| Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran. | Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran.
Hosseini E, Mousavi SS, Zamanfar D, Hashemi-Soteh SMB. | 01/29/2022 |
| In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder. | In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A, Havranek B, Papadantonakis GA, Islam SM. | 01/1/2022 |
| Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function. | Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.
Wang J, Zhu B, Zhang L, Zhao Y, Wang X, Jia Y., Free PMC Article | 11/6/2021 |
| Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China. | Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China.
Zhao Z, Liu X, Huang C, Xu H, Fu C. | 10/16/2021 |
| Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province. | 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. | 10/9/2021 |
| Systematic Modification and Evaluation of Enzyme-Loaded Chitosan Nanoparticles. | Systematic Modification and Evaluation of Enzyme-Loaded Chitosan Nanoparticles.
Lino PR, Leandro J, Figueiredo L, Amaro MP, Gonçalves LMD, Leandro P, Almeida AJ., Free PMC Article | 09/11/2021 |
| A noncoding RNA modulator potentiates phenylalanine metabolism in mice. | A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y, Tan Z, Zhang Y, Zhang Z, Hu Q, Liang K, Jun Y, Ye Y, Li YC, Li C, Liao L, Xu J, Xing Z, Pan Y, Chatterjee SS, Nguyen TK, Hsiao H, Egranov SD, Putluri N, Coarfa C, Hawke DH, Gunaratne PH, Tsai KL, Han L, Hung MC, Calin GA, Namour F, Guéant JL, Muntau AC, Blau N, Sutton VR, Schiff M, Feillet F, Zhang S, Lin C, Yang L., Free PMC Article | 08/21/2021 |