TY  - GEN
AU  - van Grunsven,E G
AU  - Mooijer,P A
AU  - Aubourg,P
AU  - Wanders,R J
TI  - Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency
SN  - 0964-6906
PY  - 1999///0914
KW  - 17-Hydroxysteroid Dehydrogenases
KW  - 3-Hydroxyacyl CoA Dehydrogenases
KW  - deficiency
KW  - Amino Acid Substitution
KW  - Cells, Cultured
KW  - DNA Mutational Analysis
KW  - Enoyl-CoA Hydratase
KW  - Fatal Outcome
KW  - Genetic Complementation Test
KW  - Humans
KW  - Hydro-Lyases
KW  - Infant
KW  - Male
KW  - Multienzyme Complexes
KW  - Peroxisomal Disorders
KW  - enzymology
KW  - Peroxisomal Multifunctional Protein-2
KW  - Point Mutation
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/8.8.1509
ER  -