Results 101 to 110 of about 7,778 (203)
The return of metabolism: biochemistry and physiology of glycolysis
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning +19 more
wiley +1 more source
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 ...
Lucas Luís Meigre Dias Pereira +6 more
doaj +1 more source
BackgroundAcute Plasmodium vivax malaria is associated with haemolysis, bone marrow suppression, reticulocytopenia, and post-treatment reticulocytosis leading to haemoglobin recovery. Little is known how malaria affects glucose-6-phosphate dehydrogenase (
Walter R J Taylor +10 more
doaj +1 more source
Selection and validation of a whole genome sequencing pharmacogenomics annotation tool. ABSTRACT Whole genome sequencing (WGS) is increasingly accessible in clinical practice, enabling pharmacogenomics (PGx) integration, including in pediatric oncology.
Meta H. M. Diekstra +9 more
wiley +1 more source
Background Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowledge on its natural history ...
Marcela Vela-Amieva +5 more
doaj +1 more source
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
ABSTRACT Background G6PD deficiency affects about 500 million people worldwide and is prevalent in many malaria‐endemic settings. People with G6PD deficiency are at risk of hemolysis when exposed to certain medications, including 8‐aminoquinoline drugs used to treat Plasmodium vivax malaria.
Flavia Regina Medeiros da Silva +7 more
wiley +1 more source
Aim: The present study aimed to evaluate the Plasmodium falciparum genetic diversity according to the host hemoglobin and G6PD genetic variants during the course of malaria in infected children aged from 2 to 10 years and living in endemic area in Burkina Faso. Study Design: The study was designed as a longitudinal follow up conducted between May
Issiaka Soulama +15 more
openaire +2 more sources
Evaluating the relationship between Clinical G6PD enzyme activity and gene variants [PDF]
Glucose-6-phosphate dehydrogenase (G6PD) is a the first and rate-limiting enzyme that plays a critical role in G6PD deficiency, the most common enzyme disorder worldwide, is related to intravascular hemolysis.
Xinyi Zhou +5 more
doaj +2 more sources
Fundamentals of big data and artificial intelligence in transfusion medicine
Abstract Within the digital transformation of medicine, transfusion medicine has quietly become a big‐data discipline. The long‐standing tradition of blood product standardization (e.g., ISBT‐128) and large donor cohorts being followed over years—some of which are sampled in national biobank projects, build a favourable setting.
Amin T. Turki +10 more
wiley +1 more source

