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3 articles related to "Isovaleric Acidemia"

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Articles

Original Research

Published on 30 Jun 2022

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches

in Genetics of Common and Rare Diseases

Si Ding
Lili Liang
Wenjuan Qiu
Huiwen Zhang
Bing Xiao
Liping Dong
Wenjun Ji
Feng Xu
Zhuwen Gong
Xuefan Gu

Frontiers in Genetics

doi 10.3389/fgene.2022.898860

3,892 views
5 citations

Brief Research Report

Published on 20 Jan 2021

Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance

in Genetics of Common and Rare Diseases

Gang Peng
Yishuo Tang
Tina M. Cowan
Hongyu Zhao
Curt Scharfe

Frontiers in Pediatrics

doi 10.3389/fped.2020.623184

10,259 views
23 citations

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

10,319 views
29 citations