Pah Gene | List of Frontiers open access articles

Original Research

Published on 17 Sep 2025

Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling

in Computational Genomics

Viviana Gallardo
Alexis Gaete
Jonathan Maldonado
Paulina Morales
Angela Peña
Valerie Hamilton
Víctor Faundes
Lorena Santa María

Frontiers in Genetics

doi 10.3389/fgene.2025.1669007

2,499 views

Original Research

Published on 03 Dec 2020

Phenylalanine Hydroxylase RNAi Knockdown Negatively Affects Larval Development, Molting and Swimming Performance of Salmon Lice

in Aquatic Physiology

Prashanna Guragain
Bjørnar Sporsheim
Astrid Skjesol
Anna Solvang Båtnes
Yngvar Olsen
Atle M. Bones
Per Winge

Frontiers in Marine Science

doi 10.3389/fmars.2020.608463

3,719 views
4 citations

Original Research

Published on 29 Oct 2019

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

in Genetics of Common and Rare Diseases

Ting Wang
Jun Ma
Qin Zhang
Ang Gao
Qi Wang
Hong Li
Jingjing Xiang
Benjing Wang

Frontiers in Genetics

doi 10.3389/fgene.2019.01052

23,031 views
99 citations

Original Research

Published on 14 Jul 2025

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China

in Genetics of Common and Rare Diseases

Huiwen Zhang
Haoyue Tian
Wencheng Dai
Luhan Zhang
Gang Guo
Guifeng Ding

Frontiers in Genetics

doi 10.3389/fgene.2025.1617418

3,086 views

Original Research

Published on 28 Jul 2021

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population

in Genetics of Common and Rare Diseases

Jianqiang Tan
Dayu Chen
Rongni Chang
Lizhen Pan
Jinling Yang
Dejian Yuan
Lihua Huang
Tizhen Yan
Haiping Ning
Jiangyan Wei

Frontiers in Genetics

doi 10.3389/fgene.2021.631688

10,323 views
29 citations

Original Research

Published on 21 Nov 2025

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024

in Genetics of Common and Rare Diseases

Ming-ming Ou
Chun-tao Sun
Li Zhang
Ling-li Kong
Lin-xin Zhang
Jun Zheng
Pei-ying Zhang
Yu-mei Wang
Xiao-fei Lin
Xin Yang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1629840

1,083 views

Articles

Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling

Phenylalanine Hydroxylase RNAi Knockdown Negatively Affects Larval Development, Molting and Swimming Performance of Salmon Lice

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024