A new insight into the molecular basis of 3β-hydroxysteroid dehydrogenase deficiency
J Simard, ML Ricketts, AM Moisan, V Tardy… - Endocrine …, 2000 - Taylor & Francis
Classical 3β-hydroxysteroid dehydrogenase/5–4 isomerase (3β-HSD) deficiency is a rare
form of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and …
form of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and …
New Insight into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from …
AM Moisan, ML Ricketts, V Tardy… - The Journal of …, 1999 - academic.oup.com
Classical 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase (3βHSD) deficiency is a form
of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and …
of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and …
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase deficiency
The 3β-hydroxysteroid dehydrogenase/Δ 5-Δ 4 isomerase (3β-HSD) isoenzymes are
responsible for the oxidation and isomerization of Δ 5-3β-hydroxysteroid precursors into Δ 4 …
responsible for the oxidation and isomerization of Δ 5-3β-hydroxysteroid precursors into Δ 4 …
Structure-function relationships of 3β-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3β-hydroxysteroid dehydrogenase deficiency
The transformation of Δ5-3β-hydroxysteroids into the corresponding Δ4-3-keto-steroids is an
essential step for the biosynthesis of all classes of active steroids: progesterone …
essential step for the biosynthesis of all classes of active steroids: progesterone …
Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene
F Mebarki, R Sanchez, E Rheaume… - The Journal of …, 1995 - academic.oup.com
Recently, the structure of two genes encoding isoenzymes responsible for 3 beta-
hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta HSD) activity in the human …
hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta HSD) activity in the human …
A Novel A10E Homozygous Mutation in the HSD3B2 Gene Causing Severe Salt-Wasting 3β-Hydroxysteroid Dehydrogenase Deficiency in 46,XX and 46,XY French …
Abstract Severe 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of
congenital adrenal hyperplasia resulting from mutations in the HSD3B2 gene that impair …
congenital adrenal hyperplasia resulting from mutations in the HSD3B2 gene that impair …
Molecular basis of human 3β-hydroxysteroid dehydrogenase deficiency
The enzyme 3β-hydroxysteroid dehydrogenase (3β-HSD) catalyses an essential step in the
biosynthesis of all classes of steroid hormones. Classical 3β-HSD deficiency is responsible …
biosynthesis of all classes of steroid hormones. Classical 3β-HSD deficiency is responsible …
Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3β-hydroxysteroid dehydrogenase (3βHSD) gene causing …
L Zhang, JI Mason, Y Naiki… - The Journal of …, 2000 - academic.oup.com
We identified two homozygous missense mutations in the human type II 3β-hydroxysteroid
dehydrogenase (3βHSD) gene, the first in codon 6 of exon II [CTT (Leu) to TTT (Phe)] in a …
dehydrogenase (3βHSD) gene, the first in codon 6 of exon II [CTT (Leu) to TTT (Phe)] in a …
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit
B Donadille, M Houang, I Netchine… - Endocrine …, 2018 - ec.bioscientifica.com
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of
congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated …
congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated …
Carboxyl-terminal mutations in 3β-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia
M Welzel, N Wustemann… - The Journal of …, 2008 - academic.oup.com
Abstract Introduction: 3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare
cause of congenital adrenal hyperplasia caused by inactivating mutations in the HSD3B2 …
cause of congenital adrenal hyperplasia caused by inactivating mutations in the HSD3B2 …