Cargando…

Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is caused by pathogenic variants of G6PD that result in decreased G6PD activity, is an X-linked inherited inborn error of metabolism that occurs worldwide. Individuals with G6PD deficiency and heterozygous females with normal G6PD activity (...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xia, Zhongmin, Wang, Xudong, Ye, Huiming, Gao, Chunliu, Zhou, Xiaoman, Chen, Jing, Ge, Yunsheng, Li, Juan, Zhou, Yulin, Guo, Qiwei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538342/ https://www.ncbi.nlm.nih.gov/pubmed/36212124 http://dx.doi.org/10.3389/fgene.2022.844381

Ejemplares similares

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations
por: Wang, Xudong, et al.
Publicado: (2021)

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants
por: Shen, Shanshan, et al.
Publicado: (2022)

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)

Population screening for glucose-6-phosphate dehydrogenase deficiency using quantitative point-of-care tests: a systematic review
por: Zailani, Mohamed Afiq Hidayat, et al.
Publicado: (2023)

Propofol infusion in an infant with glucose-6-phosphate dehydrogenase deficiency
por: Sharma, Vandana, et al.
Publicado: (2018)

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

Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants
por: Ohlsson, Annika, et al.
Publicado: (2019)

UDP-Glucose Dehydrogenases: Identification, Expression, and Function Analyses in Upland Cotton (Gossypium hirsutum)
por: Jia, Tingting, et al.
Publicado: (2021)

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

Preliminary Study of Structural Changes of Glucose-6-Phosphate Dehydrogenase Deficiency Variants
por: Louis, Naveen E., et al.
Publicado: (2022)

Acquired Glucose-6-Phosphate Dehydrogenase Deficiency
por: Pes, Giovanni Mario, et al.
Publicado: (2022)

A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil
por: Oliveira, Raimundo Antonio G., et al.
Publicado: (2009)

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq
por: Al-Musawi, Bassam MS, et al.
Publicado: (2012)

Glucose-6-phosphate dehydrogenase deficiency allelic variants and their prevalence in malaria patients in Eritrea
por: Tseghereda, Yohannes Ghebremedhin, et al.
Publicado: (2018)

A Profile of Glucose-6-Phosphate Dehydrogenase Variants and Deficiency of Multicultural Families in Korea
por: Bahk, Young Yil, et al.
Publicado: (2021)

Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants
por: Geck, Renee C., et al.
Publicado: (2023)

Three-Dimensional Modeling of Glucose-6-phosphate Dehydrogenase-Deficient Variants from German Ancestry
por: Kiani, Farooq, et al.
Publicado: (2007)

Glucose-6-phosphate dehydrogenase deficiency prevalence and genetic variants in malaria endemic areas of Colombia
por: Valencia, Sócrates Herrera, et al.
Publicado: (2016)

Stabilization of glucose-6-phosphate dehydrogenase oligomers enhances catalytic activity and stability of clinical variants
por: Garcia, Adriana Ann, et al.
Publicado: (2022)

An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population
por: Hernández-Ochoa, Beatriz, et al.
Publicado: (2023)

Glucose-6 Phosphate Dehydrogenase Deficiency and Psychotic Illness
por: Singh, Vijender, et al.
Publicado: (2012)

Glucose-6-Phosphate Dehydrogenase Deficiency in Nigerian Children
por: Williams, Olatundun, et al.
Publicado: (2013)

Glucose‐6‐phosphate dehydrogenase deficiency: not exclusively in males
por: van den Broek, Leonie, et al.
Publicado: (2016)

Fulminant hemolysis in glucose‐6‐phosphate dehydrogenase deficiency
por: Moiz, Bushra, et al.
Publicado: (2017)

Glucose-6-Phosphate Dehydrogenase, Redox Homeostasis and Embryogenesis
por: Chen, Po-Hsiang, et al.
Publicado: (2022)

Binding Mode and Selectivity of Steroids towards Glucose-6-phosphate Dehydrogenase from the Pathogen Trypanosoma cruzi
por: Ortiz, Cecilia, et al.
Publicado: (2016)

Long-range structural defects by pathogenic mutations in most severe glucose-6-phosphate dehydrogenase deficiency
por: Horikoshi, Naoki, et al.
Publicado: (2021)

TKTL1 Knockdown Impairs Hypoxia-Induced Glucose-6-phosphate Dehydrogenase and Glyceraldehyde-3-phosphate Dehydrogenase Overexpression
por: Baptista, Inês, et al.
Publicado: (2022)

Erratum to: Glucose-6-phosphate dehydrogenase deficiency prevalence and genetic variants in malaria endemic areas of Colombia
por: Valencia, Sócrates Herrera, et al.
Publicado: (2016)

Glucose-6-phosphate Dehydrogenase (G6PD) A-Variant Frequency and Novel Polymorphism in Haiti
por: Vincent, Jeanne P, et al.
Publicado: (2022)

Glucose-6-phosphate dehydrogenase contributes to the regulation of glucose uptake in skeletal muscle
por: Lee-Young, Robert S., et al.
Publicado: (2016)

Multiple Independent Fusions of Glucose-6-Phosphate Dehydrogenase with Enzymes in the Pentose Phosphate Pathway
por: Stover, Nicholas A., et al.
Publicado: (2011)

The glyceraldehyde-3-phosphate dehydrogenase gene of Moniliophthoraperniciosa, the causal agent of witches' broom disease of Theobroma cacao
por: Lima, Juliana O., et al.
Publicado: (2009)

Frequency of malaria and glucose-6-phosphate dehydrogenase deficiency in Tajikistan
por: Rebholz, Cornelia E, et al.
Publicado: (2006)

An optimised system for refolding of human glucose 6-phosphate dehydrogenase
por: Wang, Xiao-Tao, et al.
Publicado: (2009)

Glucose-6-phosphate dehydrogenase deficiency--report of 4 cases.
por: Kim, M. K., et al.
Publicado: (1992)

Psychotic mania in glucose-6-phosphate-dehydrogenase-deficient subjects
por: Bocchetta, Alberto
Publicado: (2003)

Glucose-6-Phosphate Dehydrogenase Deficiency and Type 2 Diabetes
por: Heymann, Anthony D., et al.
Publicado: (2012)

Red Algal Bromophenols as Glucose 6-Phosphate Dehydrogenase Inhibitors
por: Mikami, Daisuke, et al.
Publicado: (2013)

Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya
por: Shah, Shivang S, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_ce5s7t8064p56i3etnhfofbv0d