EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
7632194 |
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. |
causal interaction
therapeutic application
unassigned |
2
2
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
9678700 |
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. |
diagnostic usage
therapeutic application
unassigned |
2
1
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
10443904 |
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. |
causal interaction
unassigned |
3
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
10591424 |
Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia. |
causal interaction
unassigned |
3
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
14735596 |
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. |
causal interaction
unassigned |
3
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
16207203 |
Recent insights into the Smith-Lemli-Opitz syndrome. |
causal interaction
unassigned |
3
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
16687448 |
Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. |
causal interaction
unassigned |
3
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
18951487 |
Molecular consequences of altered neuronal cholesterol biosynthesis. |
causal interaction
unassigned |
4
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
19390132 |
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 1.3.1.21 | 7-dehydrocholesterol reductase deficiency |
20804844 |
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. |
causal interaction
ongoing research
unassigned |
1
2
0 |
