Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases

Glucose-6-phosphate isomerase (GPI, EC 5.3.1.9) is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second reaction step of glycolysis. GPI deficiency, transmitted as an autosomal recessive trait, is considered the second most common er...

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Detalles Bibliográficos
Autores principales: Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Zaninoni, Anna, Aytac, Selin, Cetin, Mualla, Capolsini, Ilaria, Casale, Maddalena, Paci, Sabrina, Zanella, Alberto, Barcellini, Wilma, Bianchi, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514191/
https://www.ncbi.nlm.nih.gov/pubmed/31133865
http://dx.doi.org/10.3389/fphys.2019.00467

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514191/
https://www.ncbi.nlm.nih.gov/pubmed/31133865
http://dx.doi.org/10.3389/fphys.2019.00467

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