First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene

Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identified in a 65-years-old woman who suffered from lif...

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Detalles Bibliográficos
Autores principales: Vives-Corrons, Joan-Lluis, Koralkova, Pavla, Grau, Josep M., Mañú Pereira, Maria del Mar, Van Wijk, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875906/
https://www.ncbi.nlm.nih.gov/pubmed/24427140
http://dx.doi.org/10.3389/fphys.2013.00393

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875906/
https://www.ncbi.nlm.nih.gov/pubmed/24427140
http://dx.doi.org/10.3389/fphys.2013.00393

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