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Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Virchows Arch. 2019. PMID: 31363843 Review.
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic disord …
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumul …
No effect of triheptanoin in patients with phosphofructokinase deficiency.
Raaschou-Pedersen DE, Madsen KL, Løkken N, Storgaard JH, Quinlivan R, Laforêt P, Lund A, Van Hall G, Vissing J, Ørngreen M. Raaschou-Pedersen DE, et al. Neuromuscul Disord. 2022 Apr;32(4):295-304. doi: 10.1016/j.nmd.2022.01.012. Epub 2022 Feb 4. Neuromuscul Disord. 2022. PMID: 35241345 Free article. Clinical Trial.
Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. ...
Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity bloc …