Disease on EC 1.1.1.53 - 3alpha(or 20beta)-hydroxysteroid dehydrogenase

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DISEASE
TITLE OF PUBLICATION
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11beta-hydroxysteroid dehydrogenase deficiency
11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
11?-hydroxysteroid dehydrogenase 1: translational and therapeutic aspects.
11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response.
11{beta}-Hydroxysteroid Dehydrogenase Type 1: A Tissue-Specific Regulator of Glucocorticoid Response.
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.
Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1.
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.
Apparent cortisone reductase deficiency: a unique form of hypercortisolism.
Association Study of CYP17 and HSD11B1 in Polycystic Ovary Syndrome Utilizing Comprehensive Gene Coverage.
Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase.
Cortisone-reductase deficiency associated with heterozygous mutations in 11{beta}-hydroxysteroid dehydrogenase type 1.
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency.
Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis.
Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).
Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.
Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.
Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism.
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1.
Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.
Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia.
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
Physiological roles of 11 beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase.
Premature adrenarche: novel lessons from early onset androgen excess.
Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis.
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
[11beta-hydroxysteroide dehydrogenases. Recent advances]
Cushing Syndrome
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.
Apparent cortisone reductase deficiency: a unique form of hypercortisolism.
Hyperandrogenism
Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.
Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism.
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
Hypertension
Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase.
Insulin Resistance
Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase.
nadph-hemoprotein reductase deficiency
Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis.
Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis.
Polycystic Ovary Syndrome
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
steroid sulfotransferase deficiency
Premature adrenarche: novel lessons from early onset androgen excess.