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6-Phosphogluconolactonase Deficiency

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

Related topics

Related topics

3 relations

Broader (3)

Anemia, HemolyticCarboxylic Ester HydrolasesInborn Errors of Metabolism

Papers overview

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2020
2020
Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China.
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
Multimodality imaging for evaluation of chest pain using strain analysis at rest and peak exercise
BACKGROUND Exercise stress echocardiography (SE) is commonly used for diagnosing coronary artery disease (CAD). The use of… Expand
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2017
2017
Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster
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
Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster12
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
A New Specific Succinate-Glutamate Metabolomic Hallmark in Sdhx-Related Paragangliomas
Paragangliomas (PGLs) are frequently associated with germline mutations in genes involved in energy metabolism. The purpose of… Expand
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2010
2010
Manifestaciones adrenérgicas de los tumores del tejido cromafín extraadrenal
Resumen Estudio descriptivo retrospectivo de 14 pacientes con un diagnostico histologico de paraganglioma (PGL) recogidos en el… Expand
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1985
1985
6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency.
Partial deficiency of 6-phosphogluconolactonase (EC 3.1.1.31) of the erythrocytes was discovered as an autosomal dominant… Expand
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