6-Phosphogluconolactonase Deficiency

Known as: 6PGL Deficiency, PGLS DEFICIENCY 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1985-2018
0119852018

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2018
2018
BACKGROUND Exercise stress echocardiography (SE) is commonly used for diagnosing coronary artery disease (CAD). The use of… (More)
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2017
2017
Recently, activating mutations of the hypoxia-inducible factor 2α gene (HIF2A/EPAS1) have been recognized to predispose to… (More)
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2016
2016
Recently, activating mutations of the hypoxia-inducible factor 2α gene (HIF2A/EPAS1) have been recognized to predispose to… (More)
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2013
2013
Paragangliomas (PGLs) are frequently associated with germline mutations in genes involved in energy metabolism. The purpose of… (More)
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1985
1985
Partial deficiency of 6-phosphogluconolactonase (EC 3.1.1.31) of the erythrocytes was discovered as an autosomal dominant… (More)
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