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6-Phosphogluconolactonase Deficiency

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

Papers overview

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2020
2020
Background Although 40% to 80% of pediatric patients with pheochromocytoma (PCC) and paraganglioma (PGL) have been reported to… Expand
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2018
2018
Exercise stress echocardiography (SE) is commonly used for diagnosing coronary artery disease (CAD). The use of quantitative… Expand
2017
2017
Recently, activating mutations of the hypoxia-inducible factor 2α gene (HIF2A/EPAS1) have been recognized to predispose to… Expand
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2016
2016
Recently, activating mutations of the hypoxia-inducible factor 2α gene (HIF2A/EPAS1) have been recognized to predispose to… Expand
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2013
2013
Paragangliomas (PGLs) are frequently associated with germline mutations in genes involved in energy metabolism. The purpose of… Expand
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2010
2010
Resumen Estudio descriptivo retrospectivo de 14 pacientes con un diagnostico histologico de paraganglioma (PGL) recogidos en el… Expand
1985
1985
Partial deficiency of 6-phosphogluconolactonase (EC 3.1.1.31) of the erythrocytes was discovered as an autosomal dominant… Expand