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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal screening for MCAD deficiency, a subgroup of newborns have been identified with...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2013
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3610156/ https://ncbi.nlm.nih.gov/pubmed/23509891 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-43 |
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