The purpose of neurometabolic screening is the earliest possible detection of treatable disorders. The disorders currently offered to general population screening are phenylketonuria, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, cystic fibrosis, biotinidase deficiency, maple syrup urine disease, sickle cell disease, homocystinuria. The methods used for these evaluations are mass spectroscopy and genetic testing.
|Translated title of the contribution||Updating neonatal neurometabolic screening|
|Number of pages||5|
|Issue number||1 PART 1|
|State||Published - Jan 1 2009|
ASJC Scopus subject areas