Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2015_428
Reference34 articles.
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2. Andresen BS, Dobrowolski SF, O’Reilly L et al (2001) Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68(6):1408–1418
3. Andresen BS, Lund AM, Hougaard DM et al (2012) MCAD deficiency in Denmark. Mol Genet Metab 106(2):175–188
4. Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D (2010) Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Mol Genet Metab 99(3):263–268
5. Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK (2007) Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Mol Genet Metab 92(1–2):109–114
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