Newborn Population Screening for Classic Homocystinuria by Determination of Total Homocysteine from Guthrie Cards Academic Article uri icon

Overview

MeSH Major

  • Homocysteine
  • Homocystinuria
  • Neonatal Screening

abstract

  • The study offers a reliable method for newborn screening for cystathionine beta-synthase deficiency, reaching a sensitivity of up to 100%, even if samples are taken within the first 3 days of life.

publication date

  • March 2010

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1016/j.jpeds.2009.09.054

PubMed ID

  • 19914636

Additional Document Info

start page

  • 427

end page

  • 32

volume

  • 156

number

  • 3