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

van Grunsven, E G

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. [electronic resource] - Human molecular genetics Aug 1999 - 1509-16 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0964-6906

10.1093/hmg/8.8.1509 doi


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