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.

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

Lu C, Qiu Z, Sun M, et al.

Journal of human genetics 2016; (61(7)):641-5 doi:10.1038/jhg.2016.24.

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.

The structure of the large regulatory α subunit of phosphorylase kinase examined by modeling and hydrogen-deuterium exchange.

Rimmer MA, Nadeau OW, Yang J, et al.

Protein science : a publication of the Protein Society 2018; (27(2)):472-484 doi:10.1002/pro.3339.

Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.

Quackenbush D, Devito J, Garibaldi L, Buryk M

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(4)):473-478 doi:10.1515/jpem-2017-0209.

Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma.

Iglesias Jorquera E, Tomás Pujante P, Ruiz García G, et al.

Revista espanola de enfermedades digestivas 2019; (111(2)):168-169 doi:10.17235/reed.2018.5856/2018.

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.

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.

Lim JA, Choi SJ, Gao F, et al.

Molecular therapy. Methods & clinical development 2020; (18()):240-249 doi:10.1016/j.omtm.2020.05.034.

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.

Recent Advances in the Clinical Application of Next-Generation Sequencing.

Ki CS

Pediatric gastroenterology, hepatology & nutrition 2021; (24(1)):1-6 doi:10.5223/pghn.2021.24.1.1.

Experiences with scans and scanxiety in people with advanced cancer: a qualitative study.

Bui KT, Blinman P, Kiely BE, et al.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2021; (29(12)):7441-7449 doi:10.1007/s00520-021-06319-1.

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model.

Gibson RA, Lim JA, Choi SJ, et al.

Molecular genetics and metabolism 2021; (133(3)):269-276 doi:10.1016/j.ymgme.2021.05.008.

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.

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.

Nayab A, Alam Q, Alzahrani OR, et al.

European journal of medical genetics 2021; (64(9)):104283 doi:10.1016/j.ejmg.2021.104283.

Severe allergic contact dermatitis to two different continuous glucose monitoring devices in a patient with glycogen storage disease type 9b.

Teufel-Schäfer U, Huhn C, Müller S, et al.

Pediatric dermatology 2021; (38(5)):1302-1304 doi:10.1111/pde.14767.

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.

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.

[Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].

Zhao G, Si W, Zhao X, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022; (39(9)):988-991 doi:10.3760/cma.j.cn511374-20210610-00495.

Scan-Associated Distress in People Affected by Cancer: A Qualitative Systematic Review.

Hussain M, Chau S, Turner M, Paterson C

Seminars in oncology nursing 2023; (39(5)):151502 doi:10.1016/j.soncn.2023.151502.

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.

Scanxiety and quality of life around follow-up imaging in patients with unruptured intracranial aneurysms: a prospective cohort study.

Kamphuis MJ, van der Kamp LT, van Eijk RPA, et al.

European radiology 2024; (34(9)):6018-6025 doi:10.1007/s00330-024-10602-0.

Architecture and activation of human muscle phosphorylase kinase.

Yang X, Zhu M, Lu X, et al.

Nature communications 2024; (15(1)):2719 doi:10.1038/s41467-024-47049-2.

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

Picillo E, Onore ME, Passamano L, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2024; (43(1)):21-26 doi:10.36185/2532-1900-411.

Social isolation, coping efficacy, and social well-being over time in patients with lung cancer.

Dunsmore VJ, Neupert SD

Journal of behavioral medicine 2024; (47(5)):927-934 doi:10.1007/s10865-024-00508-z.

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.

Molecular basis for the regulation of human phosphorylase kinase by phosphorylation and Ca2.

Ma R, Du B, Shi C, et al.

Nature communications 2025; (16(1)):3020 doi:10.1038/s41467-025-58363-8.

Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report.

Seminara A, Newkirk GT, Durand C

Archivos argentinos de pediatria 2025; (123(5)):e202410578 doi:10.5546/aap.2024-10578.eng.

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

Kalkan Uçar S, Elek A, Yazıcı H, et al.

European journal of clinical nutrition 2025; (79(8)):723-730 doi:10.1038/s41430-025-01614-0.

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.

A novel sequence of the PHKG2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature.

Harh S, Shahoud S, Daher S, Alasmar D

Journal of medical case reports 2025; (19(1)):317 doi:10.1186/s13256-025-05383-z.

Alone with the diagnosis: A reflective analysis on imaging report access and emotional burden.

Chau M

Radiography (London, England : 1995) 2025; (31 Suppl 2()):103104 doi:10.1016/j.radi.2025.103104.

Prevalence, severity, and modifiable predictors of scanxiety in patients undergoing routine oncologic imaging: a prospective longitudinal study.

Shah MS, Memon JA, Malik U, et al.

Clinical imaging 2025; (128()):110634 doi:10.1016/j.clinimag.2025.110634.

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

Sun C, Du T, Xia Y, et al.

Orphanet journal of rare diseases 2025; (21(1)):30 doi:10.1186/s13023-025-04178-1.

Hypercholesterolemia Successfully Treated With Two Different PCSK9 Inhibitors in a Patient With Glycogen Storage Disease IXd: Phosphorylase Kinase Deficiency.

Huynh T, Nguyen H, Nguyen M

Journal of lipid and atherosclerosis 2026; (15(1)):183-192 doi:10.12997/jla.2026.15.1.183.

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.

Continuous Glucose Monitoring-Driven Personalization of Cornstarch Therapy in Glycogen Storage Disease: A Retrospective Analysis.

Ru JH, Ryu JS, Kang Y, Yang S

Yonsei medical journal 2026; (67(5)):390-399 doi:10.3349/ymj.2025.0468.

Dietary and Therapeutic Management of Glycogen Storage Disease Type IX: Analysis of a Systematic Review.

Montanari G, Zanaroli A, Candela E, et al.

Children (Basel, Switzerland) 2026; (13(5)) doi:10.3390/children13050648.