Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

Abstract

D-bifunctional protein is involved in the peroxisomal beta-oxidation of very long chain fatty acids, branched chain fatty acids and bile acid intermediates. In line with the central role of D-bifunctional protein in the beta-oxidation of these three types of fatty acids, all patients with D-bifunctional protein deficiency so far reported in the literature… (More)

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@article{Grunsven1999EnoylCoAHD, title={Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.}, author={Elisabeth G van Grunsven and Petra A.W. Mooijer and Patrik Aubourg and Ronald J. A. Wanders}, journal={Human molecular genetics}, year={1999}, volume={8 8}, pages={1509-16} }