Author:
Koster Kira-Lee,Sturm Marga,Herebian Diran,Smits Sander H. J.,Spiekerkoetter Ute
Subject
Genetics(clinical),Genetics
Reference37 articles.
1. Andresen BS, Bross P, Udvari S et al (1997) The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet 6(5):695–707
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. Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA et al (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
4. Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248–254
5. Bross P, Engst S, Strauss AW, Kelly DP, Rasched I, Ghisla S (1990) Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli. J Biol Chem 265(13):7116–7119
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