Publications:

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: 842+3G>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.

Nutrients

Burlina, Alessandro P AP; Cazzorla, Chiara C; Massa, Pamela P; Loro, Christian C; Gueraldi, Daniela D; Burlina, Alberto B AB

Publication Date: 2020-07-14

Variant appearance in text: PAH: 842+3G>C

PubMed Link: 32674279

Variant Present in the following documents:

• Main text
• nutrients-12-02078.pdf

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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

Human Mutation

Zastrow, Diane B DB; Baudet, Heather H; Shen, Wei W; Thomas, Amanda A; Si, Yue Y; Weaver, Meredith A MA; Lager, Angela M AM; Liu, Jixia J; Mangels, Rachel R; Dwight, Selina S SS; Wright, Matt W MW; Dobrowolski, Steven F SF; Eilbeck, Karen K; Enns, Gregory M GM; Feigenbaum, Annette A; Lichter-Konecki, Uta U; Lyon, Elaine E; Pasquali, Marzia M; Watson, Michael M; Blau, Nenad N; Steiner, Robert D RD; Craigen, William J WJ; Mao, Rong R; ,

Publication Date: 2018-11

Variant appearance in text: PAH: 842+3G>C

PubMed Link: 30311390

Variant Present in the following documents:

• Main text

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The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Jimd Reports

Ho, Gladys G; Alexander, Ian I; Bhattacharya, Kaustuv K; Dennison, Barbara B; Ellaway, Carolyn C; Thompson, Sue S; Wilcken, Bridget B; Christodoulou, John J

Publication Date: 2014

Variant appearance in text: PAH: 842+3G>C

PubMed Link: 24368688

Variant Present in the following documents:

• Main text

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Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Jimd Reports

Sarkissian, Christineh N CN; Gamez, Alejandra A; Scott, Patrick P; Dauvillier, Jerome J; Dorenbaum, Alejandro A; Scriver, Charles R CR; Stevens, Raymond C RC

Publication Date: 2012

Variant appearance in text: PAH: 842+3G>C

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

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