Research & Literature

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.

Kim JA, Kim JH, Lee BH, et al.

Pediatric gastroenterology, hepatology & nutrition 2015; (18(2)):138-43 doi:10.5223/pghn.2015.18.2.138.

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

Hoogeveen IJ, van der Ende RM, van Spronsen FJ, et al.

JIMD reports 2016; (28()):41-47 doi:10.1007/8904_2015_511.

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.

Choi R, Park HD, Kang B, et al.

BMC medical genetics 2016; (17()):33 doi:10.1186/s12881-016-0295-1.

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

Bali DS, Goldstein JL, Fredrickson K, et al.

JIMD reports 2017; (37()):63-72 doi:10.1007/8904_2017_8.

Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.

Zhang J, Yuan Y, Ma M, et al.

Gene 2017; (627()):149-156 doi:10.1016/j.gene.2017.06.026.

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis.

Weinstein DA, Steuerwald U, De Souza CFM, Derks TGJ

Pediatric clinics of North America 2018; (65(2)):247-265 doi:10.1016/j.pcl.2017.11.005.

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, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):772-789 doi:10.1038/s41436-018-0364-2.

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, et al.

Molecular genetics & genomic medicine 2019; (7(11)):e877 doi:10.1002/mgg3.877.

The Effect of an 8 Week Prescribed Exercise and Low-Carbohydrate Diet on Cardiorespiratory Fitness, Body Composition and Cardiometabolic Risk Factors in Obese Individuals: A Randomised Controlled Trial.

Perissiou M, Borkoles E, Kobayashi K, Polman R

Nutrients 2020; (12(2)) doi:10.3390/nu12020482.

Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.

Kim TH, Kim KY, Kim MJ, et al.

European journal of medical genetics 2020; (63(6)):103921 doi:10.1016/j.ejmg.2020.103921.

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

Waheed N, Saeed A, Ijaz S, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(9)):1117-1123 doi:10.1515/jpem-2019-0603.

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.

Fernandes SA, Cooper GE, Gibson RA, Kishnani PS

Molecular genetics and metabolism 2020; (131(3)):299-305 doi:10.1016/j.ymgme.2020.10.004.

Uncooked cornstarch for the prevention of hypoglycemic events.

Della Pepa G, Vetrani C, Lupoli R, et al.

Critical reviews in food science and nutrition 2022; (62(12)):3250-3263 doi:10.1080/10408398.2020.1864617.

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.

Bisciglia M, Froissart R, Bedat-Millet AL, et al.

Journal of the neurological sciences 2021; (424()):117391 doi:10.1016/j.jns.2021.117391.

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, et al.

BMC pediatrics 2021; (21(1)):175 doi:10.1186/s12887-021-02648-6.

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.

Benner A, Alhaidan Y, Lines MA, et al.

American journal of medical genetics. Part A 2021; (185(10)):2959-2975 doi:10.1002/ajmg.a.62383.

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review.

Kido J, Mitsubuchi H, Watanabe T, et al.

Human genome variation 2021; (8(1)):45 doi:10.1038/s41439-021-00172-8.

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, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(4)):451-462 doi:10.1515/jpem-2021-0278.

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center.

Huang K, Duan HQ, Li QX, et al.

Frontiers in neurology 2022; (13()):945280 doi:10.3389/fneur.2022.945280.

A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.

Arends CJ, Wilson LH, Estrella A, et al.

International journal of molecular sciences 2022; (23(17)) doi:10.3390/ijms23179944.

Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I.

Sato T, Inokuchi M, Nakano S, et al.

Radiology case reports 2023; (18(1)):91-93 doi:10.1016/j.radcr.2022.09.084.

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

Zamanfar D, Hashemi-Soteh SM, Ghazaiean M, Keyhanian E

Journal of medical case reports 2024; (18(1)):14 doi:10.1186/s13256-023-04295-0.

Glycogen Storage Disorder Type IXb: Exploring Clinical Patterns and Genetic Insights Into a Rare Phosphorylase Kinase B (PHKB)-Associated Case.

Venkata Renuka I, Ramamoorthy S, B V, et al.

Cureus 2024; (16(7)):e65474 doi:10.7759/cureus.65474.

Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.

Gibson RA, Jeck WR, Koch RL, et al.

Molecular genetics and metabolism 2024; (143(4)):108597 doi:10.1016/j.ymgme.2024.108597.

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Geramizadeh B, Ezgu F, Beyzaei Z

Orphanet journal of rare diseases 2024; (19(1)):475 doi:10.1186/s13023-024-03488-0.

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, et al.

Genes 2025; (16(5)) doi:10.3390/genes16050584.

Case Report: Perioperative Management of a Patient with Glycogen Storage Disease Type IXd.

Kawata K, Otsu H, Hu Q, et al.

Surgical case reports 2025; (11(1)) doi:10.70352/scrj.cr.25-0239.

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle.

Shah RK, Khan SA, Devkota D, et al.

Clinical case reports 2026; (14(1)):e71889 doi:10.1002/ccr3.71889.

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Magner M, Šáhó R, Slavíková P, et al.

Molecular genetics and metabolism reports 2026; (46()):101297 doi:10.1016/j.ymgmr.2026.101297.