Expanded newborn screening: reducing harm, assessing benefit
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9106-6
Reference40 articles.
1. Arnold GL, Koeberl DD, Matern D et al (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93:363–370
2. Arnold GL, Van Hove J, Freedenberg D et al (2009) Clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96:85–90
3. Barashnev JI, Nikolayeva EA, Klembovsky AI (1988) Histidinaemia: screening, diagnosis, clinical picture, therapy. Acta Paediatr Hung 29:343–351
4. Berning C, Bieger I, Pauli S et al (2008) Investigation of citrullinemia type I variants by in vitro expression studies. Hum Mutat 29:1222–1227
5. Danks DM, Bartholomé K, Clayton B et al (1978) Malignant hyperphenylalaninaemia—the current status. J Inherit Metab Dis 1:49–53
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