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. Enzyme kinetic studies of two patients presenting w...

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Dettagli Bibliografici
Pubblicato in:JIMD Rep
Autori principali: Wigley, Ralph, Scalco, Renata S., Gardiner, Alice R., Godfrey, Richard, Booth, Suzanne, Kirk, Richard, Hilton‐Jones, David, Houlden, Henry, Heales, Simon, Quinlivan, Ros
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2019
Soggetti:
Research Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6851005/
https://ncbi.nlm.nih.gov/pubmed/31741825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12070
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