HEREDITARY METABOLIC DISEASES DETECTABLE BY NEONATAL SCREENING
Issue:
8
Year:
2011
The paper considers the causes, clinical manifestations, and treatment principles of 5 hereditary metabolic diseases (phenylketonuria, congenital hypothyroidism, adrenogenital syndrome, galactosemia, and cystic fibrosis) detectable in newborn infants through screening.
Keywords:
hereditary diseases
neonatal screening
blood sampling
a nurse
action algorithm