Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of...
Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants
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United States: Public Library of Science
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English
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United States: Public Library of Science
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Contents
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism. In the past, the majority of patients carried the prevalent c.985A>G mutation in the ACADM gene. Since the introduction of newborn scr...
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Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants
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TN_cdi_plos_journals_1344508341
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1344508341
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0045110
