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-year-old woman who suffered from life...

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Bibliografische gegevens

Hoofdauteurs:	Joan-Lluis eVives Corrons, Pavla eKoralkova, Josep Maria Grau, Maria del Mar Mañú Pereira, Richard eVan Wijk
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Frontiers Media S.A. 2013-12-01
Reeks:	Frontiers in Physiology
Onderwerpen:	Glycogen Storage Disease Enzyme Catalysis Phosphofructokinase deficiency PFKM Gene Missense Mutation
Online toegang:	http://journal.frontiersin.org/Journal/10.3389/fphys.2013.00393/full
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