Pub. Date : 2001 Jun
PMID : 11453964
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | The discovery of the underlying biochemical defect - deficiency of 3beta-hydroxysteroid-Delta7-reductase (DHCR7), an enzyme catalyzing the last step of cholesterol biosynthesis, and the resultant generalized cholesterol deficiency - has led to an explosion of knowledge of this biochemical pathway and to a paradigm shift in the recognition of metabolic deficiencies as causes of dysmorphic syndromes. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |
| 2 | The discovery of the underlying biochemical defect - deficiency of 3beta-hydroxysteroid-Delta7-reductase (DHCR7), an enzyme catalyzing the last step of cholesterol biosynthesis, and the resultant generalized cholesterol deficiency - has led to an explosion of knowledge of this biochemical pathway and to a paradigm shift in the recognition of metabolic deficiencies as causes of dysmorphic syndromes. | Cholesterol | 7-dehydrocholesterol reductase | Homo sapiens |