Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. [electronic resource]
Producer: 19990914Description: 1509-16 p. digitalISSN:- 0964-6906
- 17-Hydroxysteroid Dehydrogenases
- 3-Hydroxyacyl CoA Dehydrogenases -- deficiency
- Amino Acid Substitution
- Cells, Cultured
- DNA Mutational Analysis
- Enoyl-CoA Hydratase -- deficiency
- Fatal Outcome
- Genetic Complementation Test
- Humans
- Hydro-Lyases -- deficiency
- Infant
- Male
- Multienzyme Complexes -- deficiency
- Peroxisomal Disorders -- enzymology
- Peroxisomal Multifunctional Protein-2
- Point Mutation
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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