G6PD deficient patients undetected by biochemical NBS but confirmed by confirmatory testing.

G6PD deficient patients undetected by biochemical NBS but confirmed by confirmatory testing.

<p>G6PD deficient patients undetected by biochemical NBS but confirmed by confirmatory testing.</p>

محفوظ في:

التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Minyi Tan (7241654) (author)
مؤلفون آخرون:	Xiulian Liu (15838045) (author), Yinhong Zhang (19683443) (author), Yifan Yin (6584048) (author), Ting Chen (15205) (author), Yulin Li (36434) (author), Lulu Feng (8107472) (author), Bo Zhu (118038) (author), Chunjing Xu (561673) (author), Chengfang Tang (19929215) (author), Meng Sun (124749) (author), Liyun Jia (13040940) (author), Weiwei Jin (263276) (author), Chunna Fan (10642964) (author), Hui Huang (4122) (author), Xiaohua Wang (255149) (author), Jizhen Feng (17353921) (author), Hui Zou (666389) (author), Lianshu Han (346650) (author), Jingkun Miao (10704924) (author), Baosheng Zhu (3368753) (author), Cidan Huang (19929218) (author), Yonglan Huang (6553700) (author)
منشور في:	2024
الموضوعات:	Medicine Genetics Biotechnology Cancer Infectious Diseases Virology Computational Biology Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified molecular epidemiological characteristics future screening strategies 57 %, respectively north china ). eight nbs centers phosphate dehydrogenase deficiency diagnosing g6pd deficiency phosphate dehydrogenase g6pd deficiency xlink "> variant spectrum used worldwide study highlighted south china research aimed prospectively recruited phenotype correlation genetic nbs february 21 december 30 current nbs common variants combined genetic clinical practice based cohort allele frequency 601 newborns 2 %). 15 variants
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مواد مشابهة

Epidemiological characteristics and comparison of biochemical NBS with genetic NBS for G6PD deficiency between South and North China.
حسب: Minyi Tan (7241654)
منشور في: (2024)

Relationship between G6PD genotype and the enzyme activity in DBS specimens of G6PD-deficient males from Guangzhou, China.
حسب: Minyi Tan (7241654)
منشور في: (2024)

The spectrum, allele frequencies, and geographic distribution of <i>G6PD</i> variants in China.
حسب: Minyi Tan (7241654)
منشور في: (2024)

G6PD mutation variants among the three main groups of the Malaysian Orang Asli population.
حسب: Mohamed Afiq Hidayat Zailani (13751479)
منشور في: (2025)

Allelic frequencies of G6PD mutations among the Proto Malay Orang Asli normal samples (>80% of AMM) (n = 6).
حسب: Mohamed Afiq Hidayat Zailani (13751479)
منشور في: (2025)

Allelic frequencies of G6PD mutations among the Proto Malay Orang Asli deficient and intermediate samples (<80% of AMM) (n = 34).
حسب: Mohamed Afiq Hidayat Zailani (13751479)
منشور في: (2025)

G6PD mutation variants detected by the Hybribio G6PDd test among the Proto Malay Orang Asli population (n = 73).
حسب: Mohamed Afiq Hidayat Zailani (13751479)
منشور في: (2025)

Frequency of cases and range of G6PD activities measured by the OSMMR2000-D test (n = 258).
حسب: Mohamed Afiq Hidayat Zailani (13751479)
منشور في: (2025)

Tree diagram showing the results of the Hybribio G6PDd test.
حسب: Mohamed Afiq Hidayat Zailani (13751479)
منشور في: (2025)

Example of the result obtained on the MEM-G6PD membrane of the Hybribio G6PDd test.
حسب: Mohamed Afiq Hidayat Zailani (13751479)
منشور في: (2025)

Flow chart summarizing the study design and laboratory analyses.
حسب: Mohamed Afiq Hidayat Zailani (13751479)
منشور في: (2025)

Table 1_Nature-based solutions in coffee agroecosystems in Mexico: evaluation for adoption.docx
حسب: Patricia Ruiz-García (21675905)
منشور في: (2025)

Table 2_Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management.xlsx
حسب: Yilun Tao (11429791)
منشور في: (2025)

Table 1_Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management.xlsx
حسب: Yilun Tao (11429791)
منشور في: (2025)

Table 3_Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management.xlsx
حسب: Yilun Tao (11429791)
منشور في: (2025)

Table 5_Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management.xlsx
حسب: Yilun Tao (11429791)
منشور في: (2025)

Table 4_Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management.xlsx
حسب: Yilun Tao (11429791)
منشور في: (2025)

Data Sheet 1_Global, regional, and national burden of glucose-6-phosphate dehydrogenase (G6PD) deficiency from 1990 to 2021: a systematic analysis of the global burden of disease study 2021.pdf
حسب: Zhengyu Yu (310252)
منشور في: (2025)

Table 1_Global, regional, and national burden of glucose-6-phosphate dehydrogenase (G6PD) deficiency from 1990 to 2021: a systematic analysis of the global burden of disease study 2021.xlsx
حسب: Zhengyu Yu (310252)
منشور في: (2025)

Kinetic parameters of recombinant G6PD variants.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

Changes in hemoglobin levels during dengue phases, stratified by <i>G6PD</i> variant.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

<i>G6PD</i> genotyping and enzyme activity among 231 adult patients with dengue infection.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

<i>G6PD</i> genotypes among dengue-positive samples.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

Baseline characteristics among patients with dengue infection.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

Trajectory snapshots of the (A) G6PD WT (red), (B) G6PD Phaya Thai (blue), (C) G6PD Chinese-5 (magenta), (D) G6PD Viangchan (green) and (E) G6PD Viangchan+Chinese-5 (orange) at the dimer interface.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

Structural stability analyses of G6PD variants.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

The variation in hemoglobin levels over the course of illness among adult dengue patients.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

Box plot of G6PD activity for each variant among (A) male and (B) female samples.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

Prevalence of G6PD deficiency (A) and distribution of G6PD enzyme activity (B) in dengue samples.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

Raw data file.
حسب: Supat Chamnanchanunt (444132)
منشور في: (2025)

Table 3_Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022–2025.docx
حسب: Oksana Boyarchuk (8910488)
منشور في: (2025)

Table 1_Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022–2025.docx
حسب: Oksana Boyarchuk (8910488)
منشور في: (2025)

Table 2_Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022–2025.docx
حسب: Oksana Boyarchuk (8910488)
منشور في: (2025)

Mod localizes both within and outside the nucleolus in NBs.
حسب: Amalia S. Parra (4173004)
منشور في: (2024)

Additional file 2 of Evaluation of the Wondfo G6PD/Hb Test for glucose-6-phosphate dehydrogenase deficiency: preliminary performance, matrix equivalence, and usability
حسب: Rebecca K. Green (12490370)
منشور في: (2025)

Additional file 1 of Evaluation of the Wondfo G6PD/Hb Test for glucose-6-phosphate dehydrogenase deficiency: preliminary performance, matrix equivalence, and usability
حسب: Rebecca K. Green (12490370)
منشور في: (2025)

Data Sheet 1_Metformin upregulates circadian gene PER2 to inhibit growth and enhance the sensitivity of glioblastoma cell lines to radiotherapy via SIRT2/G6PD pathway.docx
حسب: Hailiang Li (740080)
منشور في: (2025)

Mod loss is associated with a reduction of central brain NBs.
حسب: Amalia S. Parra (4173004)
منشور في: (2024)

NBs in Mod-depleted brains display defects in expression of key cell identity factors.
حسب: Amalia S. Parra (4173004)
منشور في: (2024)

Logistic regression analysis of the influencing factors of DR.
حسب: Dan Liu (108669)
منشور في: (2024)

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