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1 - 4 of 4 results found for ENO3. Did you mean: eno

  1. The need for biochemical testing in beta-enolase deficiency in the genomic era.

    Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal-recessive mutations in the ENO3 gene resulting in muscle β-enolase deficiency, an enzymatic defect of the distal part of glycolysis.

  2. Artificial intelligence analysis of gene expression data predicted the prognosis of...

    © 2020, Tokai University School of Medicine. All rights reserved. Objective: We aimed to identify new biomarkers in Diffuse Large B-cell Lymphoma (DLBCL) using the deep learning technique. Methods and Results: The multilayer perceptron (MLP)

  3. Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

    Muscle β-enolase deficiency is a very rare inherited metabolic myopathy caused by an enzymatic defect of distal glycolysis. So far, the condition has been described in only one patient with mutations in ENO3 in a compound heterozygous state who

  4. A Single Gene Expression Set Derived from Artificial Intelligence Predicted the Prognosis...

    Objective: We have recently identified using multilayer perceptron analysis (artificial intelligence) a set of 25 genes with prognostic relevance in diffuse large B-cell lymphoma (DLBCL), but the importance of this set in other hematological

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