Type VII glycogenosis (muscle and erythrocyte phosphofructokinase deficiency)
- PMID: 153468
- DOI: 10.1159/000401609
Type VII glycogenosis (muscle and erythrocyte phosphofructokinase deficiency)
Similar articles
-
[Molecular pathology and gene diagnosis of muscle glycogenosis].Nihon Rinsho. 1997 Dec;55(12):3302-6. Nihon Rinsho. 1997. PMID: 9436455 Review. Japanese.
-
Kinetic properties of erythrocyte phosphofructokinase in patients with type VII glycogenosis from two families--close similarity to liver type phosphofructokinase.J Inherit Metab Dis. 1984;7(3):107-11. doi: 10.1007/BF01801765. J Inherit Metab Dis. 1984. PMID: 6239061
-
Low glucose-1, 6-bisphosphate and high fructose-2, 6-bisphosphate concentrations in muscles of patients with glycogenosis types VII and V.Biochem Biophys Res Commun. 1991 Apr 15;176(1):7-10. doi: 10.1016/0006-291x(91)90881-7. Biochem Biophys Res Commun. 1991. PMID: 2018547
-
PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.Biochem Biophys Res Commun. 1965 May 3;19:517-23. doi: 10.1016/0006-291x(65)90156-7. Biochem Biophys Res Commun. 1965. PMID: 14339001 No abstract available.
-
Mutations in muscle phosphofructokinase gene.Hum Mutat. 1995;6(1):1-6. doi: 10.1002/humu.1380060102. Hum Mutat. 1995. PMID: 7550225 Review.
Cited by
-
Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.J Clin Invest. 1983 Dec;72(6):1995-2006. doi: 10.1172/JCI111164. J Clin Invest. 1983. PMID: 6227635 Free PMC article.