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Now showing items 161-163 of 163
The role of polymorphisms in vitamin d-related genes in response to vitamin d supplementation
(
Multidisciplinary Digital Publishing Institute (MDPI)
, 2020 , Article)
Background. Vitamin D deficiency represents a major healthcare problem. Vitamin D status is influenced by genetic and environmental determinants. Several observational studies have evaluated the association of single-nucleotide ...
Immunomodulatory effects of vitamin d supplementation in a deficient population
(
Multidisciplinary Digital Publishing Institute (MDPI)
, 2021 , Article)
In addition to its canonical functions, vitamin D has been proposed to be an important mediator of the immune system. Despite ample sunshine, vitamin D deficiency is prevalent (>80%) in the Middle East, resulting in a high ...
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
(
Elsevier
, 2020 , Article)
Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the or genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA ...