Cargando…

Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil

OBJECTIVE: To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. METHODS: A total of one thousand samples were tested through quantitative analysis of enzyme activity, detecting 25 G6PD-deficient individuals. Patients...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pereira, Lucas Luís Meigre Dias, Bravin, Cristina Augusta, Cintra, Terezinha Sarquis, Cassa, Wélida Santos Portela, Santos, Thainá Altoé, Fonseca, Armando, Pratte-Santos, Rodrigo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Instituto Israelita de Ensino e Pesquisa Albert Einstein 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438675/ https://www.ncbi.nlm.nih.gov/pubmed/30673054 http://dx.doi.org/10.31744/einstein_journal/2019AO4436

Ejemplares similares

Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
por: Pratte-Santos, Rodrigo, et al.
Publicado: (2016)

Prevalence and molecular characterization of G6PD deficiency in two Plasmodium vivax endemic areas in Venezuela: predominance of the African A-(202A/376G) variant
por: Vizzi, Esmeralda, et al.
Publicado: (2016)

Neonatal Hyperbilirubinemia in infants with G6PD c.563C > TVariant
por: Moiz, Bushra, et al.
Publicado: (2012)

Erratum to: Neonatal Hyperbilirubinemia in infants with G6PD c.563C > T Variant
por: Moiz, Bushra, et al.
Publicado: (2016)

Association of Tumor Necrosis Factor-α -308G>A, -238G>A and -376G>A polymorphisms with recurrent pregnancy loss risk in the Greek population
por: Stavros, Sofoklis, et al.
Publicado: (2021)

A Population Survey of the Glucose-6-Phosphate Dehydrogenase (G6PD) 563C>T (Mediterranean) Mutation in Afghanistan
por: Jamornthanyawat, Natsuda, et al.
Publicado: (2014)

PS 339-563
Publicado: (2005)

A novel c.563 T>G, p.L189R lamin A/C mutation in identical twins with dilated cardiomyopathy
por: Lee, Euijae, et al.
Publicado: (2017)

Poster Sessions 499–563
Publicado: (2001)

TARDBP p.G376D mutation, found in rapid progressive familial ALS, induces mislocalization of TDP-43
por: Mitsuzawa, Shio, et al.
Publicado: (2018)

Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation
por: Romano, Roberta, et al.
Publicado: (2022)

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)
por: Lau, Kolja, et al.
Publicado: (2022)

An open label, multicenter, noninterventional study of apatinib in advanced gastric cancer patients (AHEAD-G202)
por: Wang, Xiang, et al.
Publicado: (2020)

G-Quadruplexes and Their Ligands: Biophysical Methods to Unravel G-Quadruplex/Ligand Interactions
por: Santos, Tiago, et al.
Publicado: (2021)

563 Fire safety in homeless encampments
por: Rehou, Sarah, et al.
Publicado: (2022)

INDUCTION OF IgG BY LIPID A IN THE NEWBORN MOUSE
por: Kolb, Cornelia, et al.
Publicado: (1974)

MINOS: Bt 376 - 599 ext - 376 ext - AP (100)
Publicado: (1991)

Investigations into beam monitors at the AE$\bar {g}$IS experiment
por: Sosa, A, et al.
Publicado: (2014)

IgG Avidity Test in Congenital Toxoplasmosis Diagnoses in Newborns
por: Cardoso Fonseca, Zulmirene, et al.
Publicado: (2017)

Secondary Reporting of G6PD Deficiency on Newborn Screening
por: Hoang, Stephanie C., et al.
Publicado: (2023)

563. Tocilizumab in the Treatment of Critical COVID-19 Pneumonia
por: Fisher, Matthew, et al.
Publicado: (2020)

The Potential of HLA-G-Bearing Extracellular Vesicles as a Future Element in HLA-G Immune Biology
por: Rebmann, Vera, et al.
Publicado: (2016)

563. Experience of a Private Hospital in the Treatment of COVID-19 Pneumonia in Veracruz, Mexico
por: Del Carpio-Orantes, Luis, et al.
Publicado: (2021)

Levels of diphtheria and tetanus specific IgG of Portuguese adult women, before and after vaccination with adult type Td. Duration of immunity following vaccination
por: Gonçalves, Guilherme, et al.
Publicado: (2007)

Machine learning based CRISPR gRNA design for therapeutic exon skipping
por: Louie, Wilson, et al.
Publicado: (2021)

Does the Maternal Serum IgG Level during Pregnancy in Primary Antibody Deficiency Influence the IgG Level in the Newborn?
por: Nagendran, Vasantha, et al.
Publicado: (2015)

$\Delta G/G$ at COMPASS
por: Bedfer, Y
Publicado: (2008)

Transfemoral balloon angioplasty of severe coarctation of aorta in 1200 g newborn
por: Garg, Gaurav, et al.
Publicado: (2017)

Evaluation of Immunoglobulin G Absorption from Goat Colostrum by Newborn Piglets
por: Martínez Miró, Silvia, et al.
Publicado: (2020)

Frequency of Leiden Mutation in Newborns with Birth Weight below 1500 g
por: Dusek, Jiri, et al.
Publicado: (2022)

Travaux au bâtiment 376
Publicado: (1992)

Depressant effect of geraniol on the central nervous system of rats: Behavior and ECoG power spectra
por: Medeiros, Katty Anne A.L., et al.
Publicado: (2018)

New Results on the Spin-dependent Structure Function of the deuteron $g^{d}_{1}$
por: Santos, Helena
Publicado: (2006)

Current Status of Newborn Screening in Southeastern Europe
por: Koracin, Vanesa, et al.
Publicado: (2021)

Oral lichen planus – retrospective study of 563 Croatian patients
por: Budimir, Vice, et al.
Publicado: (2014)

Fundamentals of network planning and optimisation 2G/3G/4G: evolution to 5G
por: Mishra, Ajay R
Publicado: (2018)

Concertos pour violoncelle G. 476, G. 480, G. 482 Aria accademica : G. 557 /
por: Boccherini, Luigi, 1743-1805
Publicado: (1993)

G-Quadruplex Aptamer-Ligand Characterization
por: Moreira, David, et al.
Publicado: (2022)

G. Bernardini with the "g-2" experimenters
por: CERN PhotoLab
Publicado: (1961)

Measurements of the $\Delta G/G$ at COMPASS
por: Brona, Grzegorz
Publicado: (2006)

Cannot write session to /tmp/vufind_sessions/sess_kbak641a122eai9garkpl66ssa