The need for biochemical testing in beta‐enolase deficiency in the genomic era

The need for biochemical testing in beta‐enolase deficiency in the genomic era

Abstract 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. Enzyme kinetic studies of two patients pre...

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Bibliographic Details
Main Authors: Ralph Wigley, Renata S. Scalco, Alice R. Gardiner, Richard Godfrey, Suzanne Booth, Richard Kirk, David Hilton‐Jones, Henry Houlden, Simon Heales, Ros Quinlivan
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:JIMD Reports
Subjects:
ENO3
glycogen storage disease type XIII
kinetic profile
β‐enolase deficiency
Online Access:https://doi.org/10.1002/jmd2.12070

Internet

https://doi.org/10.1002/jmd2.12070

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