Publications:

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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: 724C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.

Bioscience Reports

Qiang, Rong R; Wang, Lin L; He, JinHua J; Xu, Wei Jie WJ; Li, Wei W; Cai, Na N; Wang, Xiao Bin XB; Zhang, RuiXue R; Zhang, Li Ping LP; Ma, Xiao Ping XP; Wei, Chen C; Song, ChengRong C; Yu, WenWen W; Wang, Xiang X; Li, Xu X

Publication Date: 2021-02-26

Variant appearance in text: PAH: 724C>T; L242F

PubMed Link: 33564846

Variant Present in the following documents:

• Main text
• bsr-41-bsr20201660.pdf

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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Plos One

Koskenvuo, Juha W JW; Saarinen, Inka I; Ahonen, Saija S; Tommiska, Johanna J; Weckström, Sini S; Seppälä, Eija H EH; Tuupanen, Sari S; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Heliö, Krista K; Hathaway, Julie J; Gummesson, Anders A; Dahlberg, Pia P; Ojala, Tiina H TH; Vepsäläinen, Ville V; Kytölä, Ville V; Muona, Mikko M; Sistonen, Johanna J; Salmenperä, Pertteli P; Gentile, Massimiliano M; Paananen, Jussi J; Myllykangas, Samuel S; Alastalo, Tero-Pekka TP; Heliö, Tiina T

Publication Date: 2021

Variant appearance in text: PAH: 724C>T

PubMed Link: 33534821

Variant Present in the following documents:

• pone.0245681.s001.xlsx, sheet 1

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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: 724C>T

PubMed Link: 32039316

Variant Present in the following documents:

• Main text
• ao9b02955.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: 724C>T; Leu242Phe

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: Leu242Phe

PubMed Link: 28754886

Variant Present in the following documents:

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Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

The American Journal Of Clinical Nutrition

Ney, Denise M DM; Stroup, Bridget M BM; Clayton, Murray K MK; Murali, Sangita G SG; Rice, Gregory M GM; Rohr, Frances F; Levy, Harvey L HL

Publication Date: 2016-08

Variant appearance in text: PAH: L242F

PubMed Link: 27413125

Variant Present in the following documents:

• Main text
• ajcn135293.pdf

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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: L242F

PubMed Link: 26503515

Variant Present in the following documents:

• Main text
• srep15769.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PAH: L242F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.

Molecular Genetics And Metabolism

MacLeod, Erin L EL; Gleason, Sally T ST; van Calcar, Sandra C SC; Ney, Denise M DM

Publication Date: 2009-12

Variant appearance in text: PAH: L242F

PubMed Link: 19747868

Variant Present in the following documents:

• Main text

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Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids.

The American Journal Of Clinical Nutrition

van Calcar, Sandra C SC; MacLeod, Erin L EL; Gleason, Sally T ST; Etzel, Mark R MR; Clayton, Murray K MK; Wolff, Jon A JA; Ney, Denise M DM

Publication Date: 2009-04

Variant appearance in text: PAH: L242F

PubMed Link: 19244369

Variant Present in the following documents:

• Main text

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: L242F

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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