Research & Literature

Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.

Verbeek RJ, Sentner CP, Smit GP, et al.

Ultrasound in medicine & biology 2016; (42(1)):133-42.

Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease.

Oterdoom LH, Verweij KE, Biermann K, et al.

Journal of gastrointestinal and liver diseases : JGLD 2015; (24(4)):515-8 doi:10.15403/jgld.2014.1121.244.had.

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.

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Sentner CP, Hoogeveen IJ, Weinstein DA, et al.

Journal of inherited metabolic disease 2016; (39(5)):697-704 doi:10.1007/s10545-016-9932-2.

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.

Implementation of Low Glycemic Index Diet Together with Cornstarch in Post-Gastric Bypass Hypoglycemia: Two Case Reports.

Lembo E, Lupoli R, Ciciola P, et al.

Nutrients 2018; (10(6)) doi:10.3390/nu10060670.

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.

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Ponzi E, Alesi V, Lepri FR, et al.

Molecular genetics & genomic medicine 2019; (7(5)):e634 doi:10.1002/mgg3.634.

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.

Halaby CA, Young SP, Austin S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(12)):2686-2694 doi:10.1038/s41436-019-0561-7.

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.

Perveen S, Gupta N, Kumar M, et al.

American journal of medical genetics. Part A 2020; (182(5)):1190-1200 doi:10.1002/ajmg.a.61547.

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.

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.

Olgac A, İnci A, Okur İ, et al.

Annals of nutrition & metabolism 2020; (76(4)):233-241 doi:10.1159/000509335.

Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA.

Marusic T, Zerjav Tansek M, Sirca Campa A, et al.

Data in brief 2020; (32()):106205 doi:10.1016/j.dib.2020.106205.

The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa.

Qu Q, Qian Q, Shi J, et al.

Frontiers in neurology 2020; (11()):554012 doi:10.3389/fneur.2020.554012.

Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III.

Young SP, Khan A, Stefanescu E, et al.

JIMD reports 2021; (58(1)):37-43 doi:10.1002/jmd2.12181.

Glycogen Debrancher Enzyme Deficiency Myopathy.

Sadeh M, Yosovich K, Dabby R

Journal of clinical neuromuscular disease 2021; (22(4)):224-227 doi:10.1097/CND.0000000000000339.

[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].

Zhang M, Wang C, Xie Z, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(11)):1073-1076 doi:10.3760/cma.j.cn511374-20200803-00578.

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Hijazi G, Paschall A, Young SP, et al.

Molecular genetics and metabolism reports 2021; (29()):100821 doi:10.1016/j.ymgmr.2021.100821.

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Wang J, Yu Y, Cai C, et al.

BMC pediatrics 2022; (22(1)):284 doi:10.1186/s12887-022-03252-y.

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review.

Rossi A, Rutten MGS, van Dijk TH, et al.

Frontiers in endocrinology 2022; (13()):858832 doi:10.3389/fendo.2022.858832.

Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.

Rossiaud L, Fragner P, Barbon E, et al.

Frontiers in cell and developmental biology 2023; (11()):1163427 doi:10.3389/fcell.2023.1163427.

Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature.

Massimino E, Amoroso AP, Lupoli R, et al.

Frontiers in nutrition 2023; (10()):1178348 doi:10.3389/fnut.2023.1178348.

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.

Gul B, Firasat S, Shan T, et al.

PloS one 2023; (18(11)):e0288965 doi:10.1371/journal.pone.0288965.

Glycogen storage disease type III: a mixed-methods study to assess the burden of disease.

Evins A, Mayhew J, Cimms T, et al.

Therapeutic advances in endocrinology and metabolism 2024; (15()):20420188231224233 doi:10.1177/20420188231224233.

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.

Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.

Kalkan Uçar S, Altınok YA, Mansuroglu Y, et al.

Journal of inherited metabolic disease 2024; (47(5)):1001-1017 doi:10.1002/jimd.12741.

Induced Pluripotent Stem Cells and CRISPR-Cas9 Innovations for Treating Alpha-1 Antitrypsin Deficiency and Glycogen Storage Diseases.

Walsh C, Jin S

Cells 2024; (13(12)) doi:10.3390/cells13121052.

A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management.

Triggiani D, Demurtas OC, Illiano E, et al.

Protein and peptide letters 2024; (31(7)):519-531 doi:10.2174/0109298665307430240628063339.

Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study.

Monteiro V, Colonetti K, Pagno CH, et al.

Orphanet journal of rare diseases 2024; (19(1)):283 doi:10.1186/s13023-024-03201-1.

Continuous glucose monitoring (CGM) for effective glucose control in a pregnant woman living with type IIIa glycogenosis. A case report.

Bonnet JB, Fasolo M, Marty L, et al.

Clinical nutrition ESPEN 2024; (64()):519-524 doi:10.1016/j.clnesp.2024.11.010.

Liver transplantation in glycogen storage disease type III: A case-series.

Gay S, Bigot A, d'Alteroche L, et al.

JIMD reports 2025; (66(1)):e12463 doi:10.1002/jmd2.12463.

Cardiovascular involvement in glycogen storage diseases.

Pinós T, Cubbon RM, Santalla A, et al.

Nature reviews. Cardiology 2026; (23(1)):39-59 doi:10.1038/s41569-025-01171-w.

Molecular architecture and catalytic mechanism of human glycogen debranching enzyme.

Guan H, Chen H, Geng H, et al.

Nature communications 2025; (16(1)):5962 doi:10.1038/s41467-025-61077-6.

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant.

Puente-Ruiz N, Palaniappan S, Woodall A, et al.

JIMD reports 2025; (66(4)):e70030 doi:10.1002/jmd2.70030.

Avascular necrosis as an uncommon manifestation in glycogen storage disease type III: diagnostic and therapeutic challenges.

Gorial FI, Awadh NI, Khunda SS, et al.

Oxford medical case reports 2025; (2025(8)):omaf145 doi:10.1093/omcr/omaf145.

Identification of a novel nonsense mutation in the AGL gene in glycogen storage disease type IIIa: first genetically confirmed case report from Morocco.

Jakani M, Assiri I, El Foutat S, et al.

Molecular biology reports 2025; (53(1)):195 doi:10.1007/s11033-025-11345-x.

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.