Disease on EC 1.1.1.53 - 3alpha(or 20beta)-hydroxysteroid dehydrogenase
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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.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
11{beta}-Hydroxysteroid Dehydrogenase Type 1: A Tissue-Specific Regulator of Glucocorticoid Response.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Alterations of Cortisol Metabolism in Human Disorders.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Apparent cortisone reductase deficiency: a unique form of hypercortisolism.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Association Study of CYP17 and HSD11B1 in Polycystic Ovary Syndrome Utilizing Comprehensive Gene Coverage.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Cortisone-reductase deficiency associated with heterozygous mutations in 11{beta}-hydroxysteroid dehydrogenase type 1.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency.
3alpha(or 20beta)-hydroxysteroid dehydrogenase 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.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
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).
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
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.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
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.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Physiological roles of 11 beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Premature adrenarche: novel lessons from early onset androgen excess.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
3alpha(or 20beta)-hydroxysteroid dehydrogenase deficiency
[11beta-hydroxysteroide dehydrogenases. Recent advances]
Cushing Syndrome
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.
Cushing Syndrome
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.
Hyperandrogenism
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
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.
nadph-hemoprotein reductase deficiency
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).
nadph-hemoprotein reductase deficiency
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
nadph-hemoprotein reductase deficiency
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.
Polycystic Ovary Syndrome
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Polycystic Ovary Syndrome
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
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.
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