The molecular and clinical spectrum of 3beta-hydroxysteroid dehydrogenase deficiency disorder (Q81065486)

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5 January 2020

title

The molecular and clinical spectrum of 3beta-hydroxysteroid dehydrogenase deficiency disorder (English)

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5 January 2020

author name string

S Pang

series ordinal

1

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publication date

1 February 1998

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Trends in Endocrinology and Metabolism

5 January 2020

published in

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volume

9

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5 January 2020

page(s)

82-86

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5 January 2020

issue

2

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Absence of molecular defect in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3 beta-HSD activity

5 January 2020

cites work

1 reference

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7 January 2021

Late-Onset Steroid 21-Hydroxylase Deficiency: A Variant of Classical Congenital Adrenal Hyperplasia*

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7 January 2021

Structure, function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues

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7 January 2021

Evidence for Reduced 3β-ol-Hydroxysteroid Dehydrogenase Activity in Some Hirsute Women Thought to Have Poly cystic Ovary Syndrome*

1 reference

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7 January 2021

The 3beta-hydroxysteroid dehydrogenase gene family of enzymes

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7 January 2021

Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

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7 January 2021

Congenital adrenal hyperplasia

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7 January 2021

Nonsalt-Losing Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency with Normal Glomerulosa Function*

1 reference

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7 January 2021

Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women

1 reference

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7 January 2021

Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency

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7 January 2021

Pubertal Presentation of Congenital Δ5–-3β–Hydroxysteroid Dehydrogenase Deficiency*

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7 January 2021

Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency

1 reference

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7 January 2021

ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism

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7 January 2021

Molecular basis of congenital adrenal hyperplasia due to 3 beta- hydroxysteroid dehydrogenase deficiency

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7 January 2021

Genetic defects of steroidogenesis in premature pubarche

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7 January 2021

10.1016/S1043-2760(98)00015-0

Identifiers

DOI

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5 January 2020

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