Regional variations in medium-chain acyl-CoA dehydrogenase deficiency
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. Medium chain acyl CoA dehydrogenase deficiency
2. Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards;Matsubara;Lancet,1991
3. Frequency of the G985 MCAD mutation in the general population;Blakemore;Lancet,1991
4. Detection of a point mutation using short oligonucleotide probes in allele-specific hybridisation;Iitiä;Biotechniques,1994
5. Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS);Dundar;J Inher Metab Dis,1993
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2. Treatable inborn errors of metabolism causing neurological symptoms in adults;Molecular Genetics and Metabolism;2013-12
3. Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency;Molecular Genetics and Metabolism;2012-09
4. MCAD deficiency in Denmark;Molecular Genetics and Metabolism;2012-06
5. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD);Journal of Inherited Metabolic Disease;2009-10-11
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