Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review
Background: D-Bifunctional protein deficiency (D-BPD) is an autosomal recessive disorder caused by peroxisomal β-oxidation defects. According to the different activities of 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units, D-bifunctional protein defects can be divided into fou...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |