EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
10486469 |
Prevalence of 3beta-hydroxysteroid dehydrogenase-deficient nonclassic adrenal hyperplasia in hyperandrogenic women with adrenal androgen excess. |
diagnostic usage
unassigned |
2
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
10599696 |
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
10651755 |
Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
10843183 |
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
10905384 |
Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
11045335 |
Hydrops of placental stem villi complicated with fetal congenital adrenal hyperplasia. |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
11146086 |
Plasma 17-OH pregnenolone: comparison of a time-resolved fluoroimmunoassay using a new tracer 17-OH pregnenolone-3-oxyacetyl-biotine with a radioimmunoassay using 125I 17-OH pregnenolone-3-hemisuccinate-histamine. |
causal interaction
unassigned |
3
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
11196452 |
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency. |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
11522338 |
Determination of 17alpha-hydroxypregnenolone in human plasma by routine isotope dilution mass spectrometry using benchtop gas chromatography-mass selective detection. |
diagnostic usage
unassigned |
2
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
12050224 |
Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
