The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9115-5
Reference47 articles.
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2. Boles RG, Boesel C, Rinaldo P (1996) Sudden death beyond SIDS. Pediatr Pathol Lab Med 16:691–693
3. Chace DH, Kalas TA, Naylor EW (2003) Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 49:1797–1817
4. Derks TG, Duran M, Waterham HR, Reijngoud DJ, Ten Kate LP, Smit GP (2005) The difference between observed and expected prevalence of MCAD deficiency in the Netherlands: a genetic epidemiological study. Eur J Hum Genet 13:947–952
5. Derks TG, Reijngoud DJ, Waterham HR et al (2006) The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr 148:665–670
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