Literature DB >> 21441051

Newborn screening for Tyr-I: two years' experience of the New York State program.

M A Morrissey1, S Sunny, A Fahim, C Lubowski, M Caggana.   

Abstract

In 2 years, the New York newborn screening program has analyzed approximately 500,000 samples for succinylacetone (SUAC), the biomarker for Tyrosinemia, type I. There have been five screen-positive results. Two of these results were considered borderline, and a repeat specimen was requested. In three cases, an immediate referral was made to a specialty care center. Two of those three cases were confirmed for Tyr-I.
Copyright © 2011 Elsevier Inc. All rights reserved.

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Year:  2011        PMID： 21441051     DOI： 10.1016/j.ymgme.2011.02.017

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  5 in total

1.  Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

Authors:  Francesca Angileri; Anne Bergeron; Geneviève Morrow; Francine Lettre; George Gray; Tim Hutchin; Sarah Ball; Robert M Tanguay
Journal:  JIMD Rep       Date:  2015-02-15

2.  Performance of succinylacetone assays and their associated proficiency testing outcomes.

Authors:  B W Adam; E M Hall; N K Meredith; T H Lim; C A Haynes; V R De Jesus; W H Hannon
Journal:  Clin Biochem       Date:  2012-08-11       Impact factor: 3.281

Review 3.  Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.

Authors:  Chris Stinton; Julia Geppert; Karoline Freeman; Aileen Clarke; Samantha Johnson; Hannah Fraser; Paul Sutcliffe; Sian Taylor-Phillips
Journal:  Orphanet J Rare Dis       Date:  2017-03-09       Impact factor: 4.123

Review 4.  Recommendations for the management of tyrosinaemia type 1.

Authors:  Corinne de Laet; Carlo Dionisi-Vici; James V Leonard; Patrick McKiernan; Grant Mitchell; Lidia Monti; Hélène Ogier de Baulny; Guillem Pintos-Morell; Ute Spiekerkötter
Journal:  Orphanet J Rare Dis       Date:  2013-01-11       Impact factor: 4.123

5.  Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.

Authors:  Hilde Laeremans; Charles Turner; Tommy Andersson; Jose Angel Cocho de Juan; Adam Gerrard; M Rebecca Heiner-Fokkema; Diran Herebian; Nils Janzen; Giancarlo la Marca; Mattias Rudebeck
Journal:  JIMD Rep       Date:  2020-04-04
  5 in total

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