Abstract

ALFONSO, Israel; CHARRIA, Gustavo  and  PAPAZIAN, Oscar. Updating neonatal neurometabolic screening. Medicina (B. Aires) [online]. 2009, vol.69, n.1, suppl.1, pp.36-40. ISSN 0025-7680.

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.

Keywords : Neonates; Screening.

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