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...

全面介紹

書目詳細資料

Principais autores:	Joan-Lluis eVives Corrons, Pavla eKoralkova, Josep Maria Grau, Maria del Mar Mañú Pereira, Richard eVan Wijk
格式:	Artigo
語言:	Inglês
出版:	Frontiers Media S.A. 2013-12-01
叢編:	Frontiers in Physiology
主題:	Glycogen Storage Disease Enzyme Catalysis Phosphofructokinase deficiency PFKM Gene Missense Mutation
在線閱讀:	http://journal.frontiersin.org/Journal/10.3389/fphys.2013.00393/full
標簽:	添加標簽 沒有標簽, 成為第一個標記此記錄!