galactosemia उदाहरण वाक्य

उदाहरण वाक्य

1. An impairment or deficiency in the enzyme, galactose-1-phosphate uridyltransferase ( GALT ), results in classic galactosemia, or Type I galactosemia.
2. An impairment or deficiency in the enzyme, galactose-1-phosphate uridyltransferase ( GALT ), results in classic galactosemia, or Type I galactosemia.
3. Beutler also developed a screening test for galactosemia, which is used to this day to detect the disease in neonates, and prevent its severe consequences.
4. Also, infants who inherit a condition called galactosemia, an inability to process one of the sugars in breast milk, should not be breast-fed.
5. Not all NBS tests for galactosemia are designed to detect DG so affected infants born in one location may be detected while those born in another may not.
6. Liver biopsy is nonspecific but sometimes necessary to differentiate between Budd Chiari syndrome and other causes of hepatomegaly and ascites, such as galactosemia or Reye's syndrome.
7. Classic galactosemia patients typically exhibit urinary galactitol levels of only 98 to 800 mmol / mol creatine compared to normal levels of 2 to 78 mmol / mol creatine.
8. They are for PKU ( phenylketonuria ), congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria and sickle cell anemia.
9. He earned an M . S . ( 1950 ) from University of Utah and a PhD ( 1952 ) from the University of Illinois with a dissertation on galactosemia.
10. Classic galactosemia is a rare ( 1 in 47, 000 live births ), autosomal recessive disease that presents with symptoms soon after birth when a baby begins lactose ingestion.