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Cortisone reductase deficiency

Known as: 11-beta-hydroxysteroid dehydrogenase, type i, deficiency of 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (3)

11-beta-Hydroxysteroid Dehydrogenases46, XX Disorders of Sex DevelopmentSteroid Metabolism, Inborn Errors

Papers overview

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2012
2012
Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling
Context Inactivating mutations in the enzyme hexose-6-phosphate dehydrogenase (H6PDH, encoded by H6PD) cause apparent cortisone… 
Highly Cited
2011
Highly Cited
2011
Cortisone-reductase deficiency associated with heterozygous mutations in 11β-hydroxysteroid dehydrogenase type 1
In peripheral target tissues, levels of active glucocorticoid hormones are controlled by 11β-hydroxysteroid dehydrogenase type 1… 
2010
2010
Structure-function analysis of 11β-hydroxysteroid dehydrogenase
11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) is a key enzyme in the conversion of cortisone to the functional… 
Highly Cited
2008
Highly Cited
2008
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
CONTEXT Cortisone reductase deficiency (CRD) is characterized by a failure to regenerate cortisol from cortisone via 11beta… 
2007
2007
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…
CONTEXT Recently, it was proposed that a combination of the 83,557insA polymorphism in the 11beta-hydroxysteroid dehydrogenase… 
2006
2006
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome
Objective  There are close phenotypic similarities between cortisone reductase deficiency (CRD), a rare abnormality of cortisone… 
Highly Cited
2005
Highly Cited
2005
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.
CONTEXT The R453Q variant in the hexose-6-phosphate dehydrogenase gene (H6PD) and 83557insA mutations in 11beta-hydroxysteroid… 
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