Impact of age at onset and newborn screening on outcome in organic acidurias-Reference-Cited by-同舟云学术

Impact of age at onset and newborn screening on outcome in organic acidurias

Published:2015-12-21 Issue:3 Volume:39 Page:341-353
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Heringer Jana, ,Valayannopoulos Vassili,Lund Allan M.,Wijburg Frits A.,Freisinger Peter,Barić Ivo,Baumgartner Matthias R.,Burgard Peter,Burlina Alberto B.,Chapman Kimberly A.,i Saladelafont Elisenda Cortès,Karall Daniela,Mühlhausen Chris,Riches Victoria,Schiff Manuel,Sykut-Cegielska Jolanta,Walter John H.,Zeman Jiri,Chabrol Brigitte,Kölker Stefan

Funder

European Parliament (BE)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-015-9907-8/fulltext.html

Reference47 articles.

1. Baumgartner MR, Hörster F, Dionisi-Vici C et al (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 9:130

2. Bijarnia S, Wiley V, Carpenter K, Christodoulou J, Ellaway CJ, Wilcken B (2008) Glutaric aciduria type I: outcome following detection by newborn screening. J Inherit Metab Dis 31:503–507

3. Boneh A, Beauchamp M, Humphrey M, Watkins J, Peters H, Yaplito-Lee J (2008) Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome. Mol Genet Metab 94:287–291