The consequences of extended newborn screening programmes: Do we know who needs treatment?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-0843-8
Reference29 articles.
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3. 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 [In press].
4. Bartlett K, Bennett MJ, Hill RP, Lashford LS, Pollitt RJ, Worth HG (1984) Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. J Inherit Metab Dis 7: 182.
5. Baykal T, Gokcay GH, Ince Z, et al (2005) Consanguineous 3-methycrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. J Inherit Metab Dis 28: 229–233.
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