Phosphofructo-1-Kinase Deficiency Leads to a Severe Cardiac and Hematological Disorder in Addition to Skeletal Muscle Glycogenosis

Mutations in the gene for muscle phosphofructo-1-kinase (PFKM), a key regulatory enzyme of glycolysis, cause Type VII glycogen storage disease (GSDVII). Clinical manifestations of the disease span from the severe infantile form, leading to death during childhood, to the classical form, which present...

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Detalles Bibliográficos
Autores principales: García, Miguel, Pujol, Anna, Ruzo, Albert, Riu, Efrén, Ruberte, Jesús, Arbós, Anna, Serafín, Anna, Albella, Beatriz, Felíu, Juan Emilio, Bosch, Fátima
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721631/
https://www.ncbi.nlm.nih.gov/pubmed/19696889
http://dx.doi.org/10.1371/journal.pgen.1000615

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721631/
https://www.ncbi.nlm.nih.gov/pubmed/19696889
http://dx.doi.org/10.1371/journal.pgen.1000615

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