galactosemia वाक्य
उदाहरण वाक्य
मोबाइल
- Without treatment, mortality in infants with galactosemia is about 75 %.
- A person with galactosemia doesn't have one of these enzymes.
- The routine NBS is accurate for detection of galactosemia.
- This is largely due to a lack of functional animal models of classic galactosemia.
- Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition.
- Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition.
- Carriers show no symptoms of galactosemia.
- Studies of Type III galactosemia symptoms are mostly descriptive, and precise pathogenic mechanisms remain unknown.
- Because early intervention is key, galactosemia is included in newborn screening programs in many areas.
- Approximately 70 % of galactosemia-causing alleles have a single missense mutation in exon 6.
- The Beutler's test screens for galactosemia by detecting the level of enzyme of the infant.
- Duarte galactosemia is a milder form of classical galactosemia and usually has no long term side effects.
- Duarte galactosemia is a milder form of classical galactosemia and usually has no long term side effects.
- Treatment of galactosemia is most successful if initiated early, and includes dietary restriction of lactose intake.
- Galactosemia can even be detected through NBS before any ingestion of galactose-containing formula or breast milk.
- Galactosemia is caused by mutations in the gene that makes the enzyme galactose-1-phosphate uridylyltransferase.
- Dietary reduction of galactose is also the treatment but not as severe as in patients with classical galactosemia.
- Dosage is reduced in case of galactosemia as most preparations contain the monosaccharide galactose due to its synthesis process.
- At present, California tests newborn blood samples for PKU, galactosemia, primary congenital hypothyroidism and sickle cell anemia.
- Most also routinely test for galactosemia, a rare inherited disorder in which the body can't metabolize sugar.
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