A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the genes encoding the electron transfer flavoproteins A and...
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Main Authors: | , , , , , , , , , |
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Format: | Book |
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BMC,
2022-09-01T00:00:00Z.
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A1234.567 |
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