galactosemia उदाहरण वाक्य

उदाहरण वाक्य

1. Duarte galactosemia is caused by mutations that produce an unstable form of the GALT enzyme, with reduced promoter expression.
2. Florida tests for five of them : phenylketonuria ( PKU ) adrenal hyperplasia, sickle cell disease, galactosemia and thyroid disease.
3. It is not suitable for people with galactosemia, or as a partial source of nutrition for children under the age of 3.
4. Most test for galactosemia and 41 for sickle cell, but 17 states perform half or less of the tests, the report said.
5. Galactosemia is an inability to properly break down galactose due to a genetically inherited mutation in one of the enzymes in the Leloir pathway.
6. Galactosemia is inherited in an autosomal recessive manner, meaning a child must inherit one defective gene from each parent to show the disease.
7. In those states, a NBS result for galactosemia designated as " normal " may not be informative about an infant's DG status.
8. While awaiting confirmatory testing for classic galactosemia, the infant is typically fed a soy-based formula, as human and cow milk contains galactose.
9. Galactosemia is normally first detected through newborn screening, or NBS . Affected children can have serious, irreversible effects or even die within days from birth.
10. In most regions, galactosemia is diagnosed as a result of newborn screening, most commonly by determining the concentration of galactose in a dried blood spot.