Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX.
Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19.
Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.
Candela E, Montanari G, Zanaroli A, Baronio F, Ortolano R, Biasucci G, Lanari M.
Genes (Basel). 2025 May 15;16(5):584. doi: 10.3390/genes16050584.
Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
Beyzaei Z, Ezgu F, Geramizadeh B, Alborzi A, Shojazadeh A.
BMC Pediatr. 2021 Apr 15;21(1):175. doi: 10.1186/s12887-021-02648-6.
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
İnci A, Kılıç Yıldırım G, Cengiz Ergin FB, Sarı S, Eğritaş Gürkan Ö, Okur İ, Biberoğlu G, Bükülmez A, Ezgü FS, Dalgıç B, Tümer L.
J Pediatr Endocrinol Metab. 2022 Jan 17;35(4):451-462. doi: 10.1515/jpem-2021-0278. Print 2022 Apr 26.
A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.
Arends CJ, Wilson LH, Estrella A, Kwon OS, Weinstein DA, Lee YM.
Int J Mol Sci. 2022 Sep 1;23(17):9944. doi: 10.3390/ijms23179944.
Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
Kim TH, Kim KY, Kim MJ, Seong MW, Park SS, Moon JS, Ko JS.
Eur J Med Genet. 2020 Jun;63(6):103921. doi: 10.1016/j.ejmg.2020.103921. Epub 2020 Mar 31.
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B, Ezgu F, Beyzaei Z.
Orphanet J Rare Dis. 2024 Dec 20;19(1):475. doi: 10.1186/s13023-024-03488-0.
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Fernandes SA, Cooper GE, Gibson RA, Kishnani PS.
Mol Genet Metab. 2020 Nov;131(3):299-305. doi: 10.1016/j.ymgme.2020.10.004. Epub 2020 Oct 10.
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
Yu J, Ling X, Chen L, Fang Y, Lin H, Lou J, Ren Y, Chen J.
Clin Genet. 2024 Sep;106(3):267-276. doi: 10.1111/cge.14530. Epub 2024 Apr 5.
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX gamma2.
Gibson RA, Jeck WR, Koch RL, Jumani N, Choi SJ, Bali D, Young SP, Asokan A, Lim JA, Kishnani PS.
Sci Adv. 2025 Nov 14;11(46):eady6760. doi: 10.1126/sciadv.ady6760. Epub 2025 Nov 12.
