Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped de...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2016-11-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |