Estado actual de la pesquisa neurometabólica neonatal

Israel Alfonso; Gustavo Charria; Oscar Papazian

Estado actual de la pesquisa neurometabólica neonatal

Translated title of the contribution: Updating neonatal neurometabolic screening

Israel Alfonso
, Gustavo Charria
, Oscar Papazian

College of Medicine and Health Sciences

Florida International University

Research output: Contribution to journal › Article › peer-review

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 contribution	Updating neonatal neurometabolic screening
Original language	Spanish
Pages (from-to)	36-40
Number of pages	5
Journal	Medicina
Volume	69
Issue number	1 PART 1
State	Published - 2009

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Neonates
Screening

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title = "Estado actual de la pesquisa neurometab{\'o}lica neonatal",

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.",

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AU - Alfonso, Israel

AU - Charria, Gustavo

AU - Papazian, Oscar

PY - 2009

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N2 - 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.

AB - 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.

KW - Neonates

KW - Screening

UR - https://www.scopus.com/pages/publications/62149097182

M3 - Article

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AN - SCOPUS:62149097182

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ER -

Estado actual de la pesquisa neurometabólica neonatal

Abstract

UN SDGs

Keywords

OpenUrl availability

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