Associated Papers
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population.
Rezaie N et al.
Molecular Biology Research Communications, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
35692825 (PubMed )
Supplement: DataSheet1.xlsx › Supplemental_Table_5_-_Scoring_
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Fang X et al.
Scientific Reports, 2021
34556729 (PubMed )
Supplement: 41598_2021_98357_MOESM1_ESM.pdf
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.
Fernández-Guerra P et al.
Molecular Genetics & Genomic Medicine, 2014
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