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Article
Absence of Molecular Defect in the Type II 3β-Hydroxysteroid Dehydrogenase (3β-HSD) Gene in Premature Pubarche Children and Hirsute Female Patients with Moderately Decreased Adrenal 3β-HSD Activity
ABSTRACT: To date the molecular basis and hormonal criteria for inherited mild late-onset 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency congenital adrenal hyperplasia (CAH) have not been defined. We have...
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Article
STUDIES OF 3β-HYDROXYSTEROID DEHYDROGENASE (3β-HSD) GENES IN INFANTS AND CHILDREN MANIFESTING PREMATURE PUBARCHE (PP) AND INCREASED ACTH STIMULATED Δ5 STEROID LEVELS. † 573
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cDNA AND PROMOTER GENE STRUCTURE OF RABBIT WILD TYPE (Wt) CYTOCHROME P450 CHOLESTEROL SIDE-CHAIN-CLEAVAGE (SCC) ENZYME. 590
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Two Novel Homozygous Mutations in the Type II 3β-Hydroxysteroid Dehydrogenase(3β-HSD) Gene Causing Non-Salt Wasting and Salt Wasting 3β-HSD Deficiency Congenital Adrenal Hyperplasia (CAH) and the Utility of Hormonal Profiles for Diagnosising Bonafide 3β-HSD Deficiency CAH• 505