• Medicina · Jan 2009

    Review

    [Updating neonatal neurometabolic screening].

    • Israel Alfonso and Gustavo Charria.
    • Departamento de Neurología, Miami Children's Hospital, Florida International University, Miami FL 33155, USA. ialfonso@pediatricneuro.com
    • Medicina (B Aires). 2009 Jan 1; 69 (1 Pt 1): 36-40.

    AbstractThe 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.

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