Mitapivat for phosphofructokinase deficiency.
Al-Samkari H.
Am J Hematol. 2024 Oct;99(10):2045-2046. doi: 10.1002/ajh.27442. Epub 2024 Jul 23.
Phosphofructokinase deficiency; past, present and future.
Nakajima H, Raben N, Hamaguchi T, Yamasaki T.
Curr Mol Med. 2002 Mar;2(2):197-212. doi: 10.2174/1566524024605734.
The glycolytic enzyme PFKFB3 drives kidney fibrosis through promoting histone lactylation-mediated NF-κB family activation.
Wang Y, Li H, Jiang S, Fu D, Lu X, Lu M, Li Y, Luo D, Wu K, Xu Y, Li G, Zhou Y, Zhou Y, Chen W, Liu Q, Mao H.
Kidney Int. 2024 Aug;106(2):226-240. doi: 10.1016/j.kint.2024.04.016. Epub 2024 May 22.
Phosphofructokinase deficiency: recent advances in molecular biology.
Nakajima H, Hamaguchi T, Yamasaki T, Tarui S.
Muscle Nerve Suppl. 1995;3:S28-34. doi: 10.1002/mus.880181408.
Role of PFKFB3-driven glycolysis in vessel sprouting.
De Bock K, Georgiadou M, Schoors S, Kuchnio A, Wong BW, Cantelmo AR, Quaegebeur A, Ghesquière B, Cauwenberghs S, Eelen G, Phng LK, Betz I, Tembuyser B, Brepoels K, Welti J, Geudens I, Segura I, Cruys B, Bifari F, Decimo I, Blanco R, Wyns S, Vangindertael J, Rocha S, Collins RT, Munck S, Daelemans D, Imamura H, Devlieger R, Rider M, Van Veldhoven PP, Schuit F, Bartrons R, Hofkens J, Fraisl P, Telang S, Deberardinis RJ, Schoonjans L, Vinckier S, Chesney J, Gerhardt H, Dewerchin M, Carmeliet P.
Cell. 2013 Aug 1;154(3):651-63. doi: 10.1016/j.cell.2013.06.037.
Glycogen Storage Disease.
John TA, Anastasopoulou C.
2025 Jan 21. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
Infantile form of muscle phosphofructokinase deficiency in a premature neonate.
Wu PL, Yang YN, Tey SL, Yang CH, Yang SN, Lin CS.
Pediatr Int. 2015 Aug;57(4):746-9. doi: 10.1111/ped.12616. Epub 2015 Jun 25.
Novel vectors and approaches for gene therapy in liver diseases.
Maestro S, Weber ND, Zabaleta N, Aldabe R, Gonzalez-Aseguinolaza G.
JHEP Rep. 2021 Apr 30;3(4):100300. doi: 10.1016/j.jhepr.2021.100300. eCollection 2021 Aug.
Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet.
Swoboda KJ, Specht L, Jones HR, Shapiro F, DiMauro S, Korson M.
J Pediatr. 1997 Dec;131(6):932-4. doi: 10.1016/s0022-3476(97)70048-9.
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.
Neuromuscul Disord. 2022 Apr;32(4):295-304. doi: 10.1016/j.nmd.2022.01.012. Epub 2022 Feb 4.
