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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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Wigley, Ralph, Scalco, Renata S., Gardiner, Alice R., Godfrey, Richard, Booth, Suzanne, Kirk, Richard, Hilton‐Jones, David, Houlden, Henry, Heales, Simon, Quinlivan, Ros
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Research Reports
Acesso em linha: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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