Publications:

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The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

Human Genomics

Zhang, Chuan C; Zhang, Pei P; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X

Publication Date: 2023-04-25

Variant appearance in text: PAH: 722delG

PubMed Link: 37098607

Variant Present in the following documents:

• Main text
• 40246_2023_Article_475.pdf

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Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

Molecular Genetics & Genomic Medicine

Nguyen, Tat-Thanh TT; Le, Quang-Thanh QT; Hoang, Diem-Tuyet Thi DT; Du Nguyen, Huu H; Ha, Thi Minh Thi TMT; Nguyen, My-Nhi Ba MB; Ta, Thanh-Thuy Thi TT; Tran, Nhat Thang NT; Trinh, Thu Huong Nhat THN; Doan, Kim Phuong Thi KPT; Lam, Duc Tam DT; Tran, Son Tra Thi STT; Nguyen, Thanh Xuan TX; Le, Hong-Thinh HT; Ha, Van Tuan VT; Nguyen, Manh Hoan MH; Le, Ba-Liem Kim BK; Duong, My Linh ML; Pham, Trung Ha TH; Tran, Anh Tuan AT; Phan, Xuan Lan Thi XLT; Huynh, Thanh Liem TL; Nguyen, Lan-Phuong Thi LT; Vo, Thanh Binh TB; Le, Duy-Khang Nguyen DN; Tran, Ngoc Nhu Thi NNT; Tran, Quynh Nhu Thi QNT; Van, Yen-Linh Thi YT; Huynh, Bich-Ngoc Thi BT; Nguyen, Thanh-Phương Thi TT; Dao, Trang Thi TT; Nguyen, Lan Phuong Thi LPT; Vo, Truong-Giang TG; Do, Thanh-Thuy Thi TT; Truong, Dinh-Kiet DK; Tang, Hung Sang HS; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H

Publication Date: 2022-07

Variant appearance in text: PAH: 722del; Arg241fs

PubMed Link: 35502621

Variant Present in the following documents:

• Main text
• MGG3-10-e1959.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: PAH: 722delG

PubMed Link: 35193651

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2231.pdf
• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine

Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z

Publication Date: 2022-01-25

Variant appearance in text: PAH: 722delG

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

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Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Bmc Medical Genomics

Peng, Dai D; Ganye, Zhao Z; Gege, Sun S; Yanjie, Xia X; Ning, Liu L; Xiangdong, Kong K

Publication Date: 2021-12-17

Variant appearance in text: PAH: 722delG; Arg241Profs

PubMed Link: 34920737

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1141.pdf

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Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Bmc Medical Genomics

Peng, Dai D; Ganye, Zhao Z; Gege, Sun S; Yanjie, Xia X; Ning, Liu L; Xiangdong, Kong K

Publication Date: 2021-12-17

Variant appearance in text: PAH: 722delG; Arg241Profs

PubMed Link: 34920737

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1141.pdf

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Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.

Chinese Medical Journal

Xiao, Yang Y; Gu, Qiang Q; Wu, Hai-Rong HR; Wang, Song-Tao ST; Pei, Pei P; Zheng, Xue-Fei XF; Pan, Hong H; Ma, Yi-Nan YN

Publication Date: 2021-05-19

Variant appearance in text: PAH: 722delG

PubMed Link: 34039861

Variant Present in the following documents:

• cm9-134-1626-s001.pdf

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Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.

Orphanet Journal Of Rare Diseases

Wang, Xin X; Wang, Yanyun Y; Ma, Dingyuan D; Zhang, Zhilei Z; Li, Yahong Y; Yang, Peiying P; Sun, Yun Y; Jiang, Tao T

Publication Date: 2021-05-12

Variant appearance in text: PAH: 722delG; Arg241fs

PubMed Link: 33980295

Variant Present in the following documents:

• Main text

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Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS.

Acs Omega

Yan, Yousheng Y; Jin, Xiaohua X; Wang, Xing X; Zhang, Chuan C; Zhang, Qinhua Q; Zheng, Lei L; Feng, Xuan X; Hao, Shengju S; Gao, Huafang H; Ma, Xu X

Publication Date: 2020-02-04

Variant appearance in text: PAH: 722delG

PubMed Link: 32039316

Variant Present in the following documents:

• Main text
• ao9b02955.pdf

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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

Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B

Publication Date: 2019

Variant appearance in text: PAH: 722delG; R241Pfs

PubMed Link: 31737040

Variant Present in the following documents:

• Main text
• fgene-10-01052.pdf

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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Scientific Reports

Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q

Publication Date: 2018-11-20

Variant appearance in text: PAH: 722delG; R241Pfs*100

PubMed Link: 30459323

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35373.pdf
• 41598_2018_35373_MOESM1_ESM.pdf

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Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics

Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X

Publication Date: 2018-01-09

Variant appearance in text: PAH: 722delG; Arg241Profs*100

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

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The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports

Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X

Publication Date: 2017-07-28

Variant appearance in text: PAH: Arg241Profs*100

PubMed Link: 28754886

Variant Present in the following documents:

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Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Scientific Reports

Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J

Publication Date: 2015-10-27

Variant appearance in text: PAH: 722delG; R241Pfs*100

PubMed Link: 26503515

Variant Present in the following documents:

• Main text

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Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Pediatric Research

Tao, Jing J; Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Li, Xiaohong X; Song, Jiaping J; Deng, Ying Y; Jin, Xi X; Zhu, Jun J

Publication Date: 2015-12

Variant appearance in text: PAH: 722delG; R241Pfs*100

PubMed Link: 26322415

Variant Present in the following documents:

• pr2015167a.pdf

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Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.

International Journal Of Clinical And Experimental Medicine

Yu, Wuzhong W; He, Jiang J; Yang, Xi X; Zou, Hongyun H; Gui, Junhao J; Wang, Rui R; Yang, Liu L; Wang, Zheng Z; Lei, Quan Q

Publication Date: 2014

Variant appearance in text: PAH: 722delG

PubMed Link: 25550961

Variant Present in the following documents:

• Main text

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