Cargando…

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzymatic defect. The purpose of this study was to evaluate the profile of G6PD deficiency and investigate the factors associated with the accuracy of newborn screening (NBS) in Xiamen, China. Methods: A total of 9...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Xudong, Xia, Zhongmin, He, Ying, Zhou, Xiaoman, Zhang, Haixia, Gao, Chunliu, Ge, Yunsheng, Cai, Xiaofang, Zhou, Yulin, Guo, Qiwei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8517332/ https://www.ncbi.nlm.nih.gov/pubmed/34659341 http://dx.doi.org/10.3389/fgene.2021.718503

Ejemplares similares

Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China
por: Xia, Zhongmin, et al.
Publicado: (2022)

Prevalence and genotype distribution of HPV infection among women in Xiamen, China
por: Shen, Ye, et al.
Publicado: (2023)

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations
por: Zhou, Wei, et al.
Publicado: (2019)

The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation
por: Wu, Su, et al.
Publicado: (2022)

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population
por: Wang, Xin, et al.
Publicado: (2021)

Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China
por: Zhou, Duo, et al.
Publicado: (2022)

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype
por: Zhang, Nianyi, et al.
Publicado: (2021)

Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China
por: Yang, Yuqi, et al.
Publicado: (2019)

A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy
por: Huang, Yanru, et al.
Publicado: (2021)

The genotypic and phenotypic spectrum of PIGA deficiency
por: Tarailo-Graovac, Maja, et al.
Publicado: (2015)

Genomic insights into the adaptation of Synechococcus to the coastal environment on Xiamen
por: Zhang, Ting, et al.
Publicado: (2023)

Meteorological Factors and the Transmissibility of Hand, Foot, and Mouth Disease in Xiamen City, China
por: Xu, Jingwen, et al.
Publicado: (2021)

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
por: Zeng, Baitao, et al.
Publicado: (2023)

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures
por: Bayat, Allan, et al.
Publicado: (2021)

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening
por: Lin, Yiming, et al.
Publicado: (2019)

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population
por: Li, Xia, et al.
Publicado: (2022)

Necroptosis is Related to Anti-PD-1 Treatment Response and Influences the Tumor Microenvironment in Head and Neck Squamous Cell Carcinoma
por: Wang, Qiwei, et al.
Publicado: (2022)

A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome
por: Chen, Jing, et al.
Publicado: (2021)

Phenotype-Genotype analysis of caucasian patients with high risk of osteoarthritis
por: Wang, Yanfei, et al.
Publicado: (2022)

The genotypic and phenotypic spectrum of MTO1 deficiency
por: O'Byrne, James J., et al.
Publicado: (2018)

Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review
por: Sun, Bijun, et al.
Publicado: (2022)

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients
por: Hu, Yacen, et al.
Publicado: (2021)

Multi-Factor Analysis of Single-Center Asthma Control in Xiamen, China
por: Zhu, Yu, et al.
Publicado: (2019)

Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment
por: Xie, Jieqiong, et al.
Publicado: (2022)

Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China
por: Jiang, Yi, et al.
Publicado: (2015)

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
por: Ahting, Uwe, et al.
Publicado: (2015)

Experimental investigation of the effect of surgical masks on outdoor thermal comfort in Xiamen, China
por: Zhou, Zhiqiang, et al.
Publicado: (2023)

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study
por: Ding, Yifeng, et al.
Publicado: (2020)

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
por: Chang, Siyu, et al.
Publicado: (2022)

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province
por: Xie, Kang, et al.
Publicado: (2022)

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center
por: Vela-Amieva, M., et al.
Publicado: (2022)

The differential view of genotype–phenotype relationships
por: Orgogozo, Virginie, et al.
Publicado: (2015)

Effects of particulate matter (PM) on childhood asthma exacerbation and control in Xiamen, China
por: Wu, Jinzhun, et al.
Publicado: (2019)

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China
por: Yang, Xiangchun, et al.
Publicado: (2021)

Special issue on the 100(th) anniversary of Xiamen University
por: Kang, Junyong, et al.
Publicado: (2021)

ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum
por: Liu, Zhixu, et al.
Publicado: (2021)

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review
por: Yang, Junxing, et al.
Publicado: (2021)

Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome
por: Wu, Lihua, et al.
Publicado: (2022)

New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study
por: Wang, Benjing, et al.
Publicado: (2019)

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program
por: Remec, Ziga I., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_6tfb6k2menb3ekk5lg8f2c2q8t