Peiying Yang

Uric Acid Disrupts Heart Development in Zebrafish by Inhibiting the Wnt Signaling Pathway

Yahong Li, Peiying Yang, Xin Wang, Zhilei Zhang et autres

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Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China

Xin Wang, Yun Sun, Xian-Wei Guan, Yanyun Wang et autres

BACKGROUND: Lysosomal storage disorders (LSDs) have a relatively high incidence among rare diseases and can lead to severe consequences if not treated promptly. However, many countries and regions have not included these disorders in their newborn screening programs, resulting in missed early …

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Optimized efficient screening for Duchenne muscular dystrophy carriers using proto-oncogene tyrosine-protein kinase receptor Ret

Dongyang Hong, Zhilei Zhang, Yun Sun, Xin Wang et autres

INTRODUCTION: Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting 5% to 19% of carriers. Creatine kinase (CK) is a traditional biomarker for DMD, but its screening accuracy is limited. This study evaluated the potential of combining the proto-oncogene tyrosine-protein kinase …

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Effect of Newborn Genomic Screening for Lysosomal Storage Disorders: A Randomized Clinical Trial in China

Xin Wang, Yun Sun, Xian-Wei Guan, Yanyun Wang et autres

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Creatine Kinase-MM/Proto-oncogene Tyrosine-Protein Kinase Receptor as a Sensitive Indicator for Duchenne Muscular Dystrophy Carriers

Zhilei Zhang, Dongyang Hong, Dingyuan Ma, Peiying Yang et autres

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Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China

Yun Sun, Xian-Wei Guan, Yanyun Wang, Dongyang Hong et autres

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[Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene].

Peiying Yang, Yun Sun, Xin Wang, Dingyuan Ma et autres

OBJECTIVE: To explore the pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase (PAH) gene among patients with PAH deficiency. METHODS: Thirty seven children diagnosed with PAH deficiency at the Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University between …

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Utility, benefits, and risks of newborn genetic screening carrier reports for families

Xin Wang, Yun Sun, Jingyu Zhao, Xian-Wei Guan et autres

Background: Newborn genetic screening (NBGS) based on next-generation sequencing offers enhanced disease detection and better detection rates than traditional newborn screening. However, challenges remain, especially around reporting the NBGS carrier results. Therefore, we aimed to investigate the NBGS carrier parents' views on …

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Transcriptome analysis reveals a new insights toward molecular mechanisms of Methylmalonic acidemia in hepatocytes

Zhilei Zhang, Xin Wang, Yanyun Wang, Yahong Li et autres

Abstract Background: The overabundance of methylmalonic acid due to the mutation of methylmalonyl-CoA mutase in the mitochondria contributes to hepatocyte damage, impacting various functions, especially energy metabolism. Our study focuses on analyzing transcriptomic alterations induced by methylmalonic acid to elucidate novel mechanisms …

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Newborn genetic screening is highly effective for high-risk infants: A single-centre study in China

Xin Wang, Yun Sun, Xian-Wei Guan, Yanyun Wang et autres

Background: Newborn genetic screening (NBGS) is promising for early detection of genetic diseases in newborns. However, little is known about its clinical effectiveness in special groups like high-risk infants. To address this gap, we aimed to investigate the impact of NBGS on …

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Untargeted metabolomics analysis of differences in metabolite levels in congenital heart disease of varying severity

Yahong Li, Yun Sun, Peiying Yang, Xin Wang et autres

Abstract Background Congenital heart disease (CHD) is characterized by various phenotypes, however, differences in metabolic profiles associated with CHD of various severity have not been elucidated. In this study, differences in metabolite concentrations among mild, moderate, and severe forms of CHD were …

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Preoperative Whey-Protein Intervention Reduces the Incidence and Clinical Indicators of Postoperative Nausea and Vomiting in Gynecologic Oncology Patients Under Negative Nutritional Risk

Duo Zhang, Shenghuang Zhao, Peiying Yang, Xu Gao et autres

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