Estado actual de la pesquisa neurometabólica neonatal

Translated title of the contribution: Updating neonatal neurometabolic screening

Israel Alfonso, Gustavo Charria, Oscar Papazian

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

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 contributionUpdating neonatal neurometabolic screening
Original languageSpanish
Pages (from-to)36-40
Number of pages5
JournalMedicina
Volume69
Issue number1 PART 1
StatePublished - Jan 1 2009

Keywords

  • Neonates
  • Screening

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Alfonso, I., Charria, G., & Papazian, O. (2009). Estado actual de la pesquisa neurometabólica neonatal. Medicina, 69(1 PART 1), 36-40.