Research & Literature

Genetics of Hearing Loss--Nonsyndromic.

Chang KW

Otolaryngologic clinics of North America 2015; (48(6)):1063-72.

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I.

Ross KM, Brown LM, Corrado MM, et al.

JIMD reports 2016; (26()):85-90 doi:10.1007/8904_2015_488.

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.

Role of glycogen phosphorylase in liver glycogen metabolism.

Agius L

Molecular aspects of medicine 2015; (46()):34-45.

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.

Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

Hedberg-Oldfors C, Glamuzina E, Ruygrok P, et al.

Journal of inherited metabolic disease 2017; (40(1)):139-149 doi:10.1007/s10545-016-9978-1.

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

Chéraud C, Froissart R, Lannes B, Echaniz-Laguna A

Muscle & nerve 2018; (57(1)):157-160 doi:10.1002/mus.25588.

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Ripolone M, Violano R, Ronchi D, et al.

Neuropathology and applied neurobiology 2018; (44(5)):449-462 doi:10.1111/nan.12414.

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.

Kishnani PS, Hwu WL,

Pediatrics 2017; (140(Suppl 1)):S1-S3 doi:10.1542/peds.2016-0280B.

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Stojkovic T, Chanut A, Laforêt P, et al.

Muscle & nerve 2018; (57(5)):E122-E124 doi:10.1002/mus.26030.

Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch.

Rousseau-Nepton I, Huot C, Laforte D, et al.

Molecular genetics and metabolism 2018; (123(3)):326-330 doi:10.1016/j.ymgme.2017.09.003.

Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis.

Zobeiri M

International journal of organ transplantation medicine 2017; (8(4)):217-220.

[Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing].

Bolz HJ

Klinische Monatsblatter fur Augenheilkunde 2018; (235(3)):258-263 doi:10.1055/s-0043-122076.

Pompe disease: how to solve many problems with one solution.

Puertollano R, Raben N

Annals of translational medicine 2018; (6(15)):313 doi:10.21037/atm.2018.06.52.

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.

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis.

Chen ZY, Liu YP, Zheng GJ

Annals of hepatology 2018; (17(6)):903-905 doi:10.5604/01.3001.0012.7189.

Molecular diagnosis of glycogen storage disease type I: a review.

Beyzaei Z, Geramizadeh B

EXCLI journal 2019; (18()):30-46.

Infantile-onset Pompe disease: Diagnosis and management.

Bay LB, Denzler I, Durand C, et al.

Archivos argentinos de pediatria 2019; (117(4)):271-278 doi:10.5546/aap.2019.eng.271.

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.

Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

Bilal H, Cheema HA, Fayyaz Z, et al.

Journal of Ayub Medical College, Abbottabad : JAMC 2019; (31(3)):368-371.

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study.

Jang HJ, Yang HR, Ko JS, et al.

Journal of Korean medical science 2020; (35(1)):e5 doi:10.3346/jkms.2020.35.e5.

McArdle disease causing rhabdomyolysis following vaginal delivery.

McMillan BM, Hirshberg JS, Cosgrove SC

Anaesthesia reports 2019; (7(2)):73-75 doi:10.1002/anr3.12022.

Repeatedly in Rhabdomyolysis.

Gooch C, Dean SJ, Marzullo L

Pediatric emergency care 2021; (37(12)):e1759-e1760 doi:10.1097/PEC.0000000000002079.

Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study.

Korula S, Danda S, Paul PG, et al.

Journal of clinical and experimental hepatology 2020; (10(3)):222-227 doi:10.1016/j.jceh.2019.07.007.

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.

Successful treatment of diabetes associated with glycogen storage disease type Ia.

Yuan X, Ma W, Wu X, et al.

Diabetic medicine : a journal of the British Diabetic Association 2021; (38(2)):e14373 doi:10.1111/dme.14373.

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.

Meena NK, Raben N

Biomolecules 2020; (10(9)) doi:10.3390/biom10091339.

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.

Beyzaei Z, Geramizadeh B, Karimzadeh S

Orphanet journal of rare diseases 2020; (15(1)):286 doi:10.1186/s13023-020-01573-8.

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease.

Chiang SC, Chen PW, Hwu WL, et al.

International journal of neonatal screening 2018; (4(4)):41 doi:10.3390/ijns4040041.

A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.

Xu Q, Tang H, Duan L, et al.

Molecular genetics & genomic medicine 2021; (9(1)):e1568 doi:10.1002/mgg3.1568.

The potential of dietary treatment in patients with glycogen storage disease type IV.

Derks TGJ, Peeks F, de Boer F, et al.

Journal of inherited metabolic disease 2021; (44(3)):693-704 doi:10.1002/jimd.12339.

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.

[Advances on the management of renal lesion in glycogen storage disease type I].

Wu WC, Wang JS

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2021; (29(1)):75-78 doi:10.3760/cma.j.cn501113-20201230-00687.

"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports.

Vernuccio F, Austin S, Meyer M, et al.

World journal of clinical cases 2021; (9(4)):871-877 doi:10.12998/wjcc.v9.i4.871.

Liver Transplantation for Glycogen Storage Disease Type IV.

Liu M, Sun LY

Frontiers in pediatrics 2021; (9()):633822 doi:10.3389/fped.2021.633822.

A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management.

Peeks F, Hoogeveen IJ, Feldbrugge RL, et al.

Journal of inherited metabolic disease 2021; (44(5)):1136-1150 doi:10.1002/jimd.12383.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.

Rossi A, Hoogeveen IJ, Lubout CMA, et al.

Journal of inherited metabolic disease 2021; (44(5)):1124-1135 doi:10.1002/jimd.12386.

[The application of continuous glucose monitoring in the management of hepatic glycogen storage disease].

Du CQ, Wei H, Zhang C, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2021; (59(6)):452-458 doi:10.3760/cma.j.cn112140-20210321-00235.

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.

The Second Wind in McArdle Patients: Fitness Matters.

Salazar-Martínez E, Santalla A, Valenzuela PL, et al.

Frontiers in physiology 2021; (12()):744632 doi:10.3389/fphys.2021.744632.

[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.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.

Diaz-Manera J, Kishnani PS, Kushlaf H, et al.

The Lancet. Neurology 2021; (20(12)):1012-1026 doi:10.1016/S1474-4422(21)00241-6.

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.

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Holzwarth J, Minopoli N, Pfrimmer C, et al.

Neuropediatrics 2022; (53(1)):39-45 doi:10.1055/s-0041-1735250.

Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease.

Winkler M, von Landenberg C, Kuchenbecker K, et al.

Neuromuscular disorders : NMD 2022; (32(3)):195-205 doi:10.1016/j.nmd.2022.01.001.

Approach to the diagnosis of metabolic myopathies.

Nagappa M, Narayanappa G

Indian journal of pathology & microbiology 2022; (65(Supplement)):S277-S290 doi:10.4103/ijpm.ijpm_1088_21.

Greater Efficacy of Avalglucosidase vs Alglucosidase Alfa in Adult Pompe Disease? The Jury Is Still Out.

de Visser M, Argov Z

Neurology 2022; (99(5)):183-184 doi:10.1212/WNL.0000000000200821.

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.

Kiely BT, Koch RL, Flores L, et al.

Frontiers in genetics 2022; (13()):992406 doi:10.3389/fgene.2022.992406.

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease.

Rodriguez-Lopez C, Santalla A, Valenzuela PL, et al.

The Journal of physiology 2023; (601(3)):551-566 doi:10.1113/JP283743.

Infantile Pompe disease with intrauterine onset: a case report and literature review.

Xi H, Li X, Ma L, et al.

Italian journal of pediatrics 2022; (48(1)):187 doi:10.1186/s13052-022-01379-3.

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.

Wilke MVMB, de Oliveira BM, Starosta RT, et al.

Biomedicines 2023; (11(2)) doi:10.3390/biomedicines11020363.

Genome editing using Staphylococcus aureus Cas9 in a canine model of glycogen storage disease Ia.

Arnson B, Kang HR, Brooks ED, et al.

Molecular therapy. Methods & clinical development 2023; (29()):108-119 doi:10.1016/j.omtm.2023.03.001.

Gene therapy for glycogen storage diseases.

Koeberl DD, Koch RL, Lim JA, et al.

Journal of inherited metabolic disease 2024; (47(1)):93-118 doi:10.1002/jimd.12654.

Glycogen storage disease with massive left ventricular hypertrophy and increased native T1: a case report.

Wang J, Pu L, Han Y, Chen Y

European heart journal. Case reports 2023; (7(9)):ytad458 doi:10.1093/ehjcr/ytad458.

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.

Ibarra-González I, Fernández-Lainez C, Vela-Amieva M, et al.

International journal of neonatal screening 2023; (9(4)) doi:10.3390/ijns9040059.

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.

Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease.

Valenzuela PL, Santalla A, Alejo LB, et al.

Clinical nutrition (Edinburgh, Scotland) 2024; (43(3)):692-700 doi:10.1016/j.clnu.2024.01.026.

Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease.

Zhang N, Liu F, Zhao Y, et al.

The Journal of pathology 2024; (263(1)):8-21 doi:10.1002/path.6255.

Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin.

Kaczor M, Malicki S, Folkert J, et al.

Blood advances 2024; (8(11)):2790-2802 doi:10.1182/bloodadvances.2023012403.

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.

Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.

Jauze L, Vie M, Miagoux Q, et al.

JCI insight 2024; (9(11)).

Application of Next-Generation Sequencing (NGS) Techniques for Selected Companion Animals.

Domrazek K, Jurka P

Animals : an open access journal from MDPI 2024; (14(11)) doi:10.3390/ani14111578.

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Koch RL, Kiely BT, Choi SJ, et al.

JCI insight 2024; (9(12)).

Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.

Weinstein DA, Jackson RJ, Brennan EA, et al.

Orphanet journal of rare diseases 2024; (19(1)):258 doi:10.1186/s13023-024-03274-y.

Metabolic aspects of glycogenolysis with special attention to McArdle disease.

Stefanik E, Dubińska-Magiera M, Lewandowski D, et al.

Molecular genetics and metabolism 2024; (142(4)):108532 doi:10.1016/j.ymgme.2024.108532.

Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice.

Santos-Lozano A, Boraita A, Valenzuela PL, et al.

Medicine and science in sports and exercise 2024; (56(12)):2241-2255 doi:10.1249/MSS.0000000000003529.

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.

Feng Q, Zhang MQ, Ba CX, Zhang YQ

Medicine 2024; (103(35)):e39534 doi:10.1097/MD.0000000000039534.

Personalized management of hepatic glycogen storage disorders: The role of continuous glucose monitoring.

Gupta A, Agarwala A, Kalaivani M, et al.

Journal of pediatric gastroenterology and nutrition 2025; (80(1)):151-162 doi:10.1002/jpn3.12391.

Role of glycogen in cardiac metabolic stress.

Xiang KF, Wan JJ, Wang PY, Liu X

Metabolism: clinical and experimental 2025; (162()):156059 doi:10.1016/j.metabol.2024.156059.

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.

Mitochondrial Redox Status Regulates Glycogen Metabolism via Glycogen Phosphorylase Activity.

Sakamoto I, Shibuya S, Nojiri H, et al.

Antioxidants (Basel, Switzerland) 2024; (13(11)) doi:10.3390/antiox13111421.

Quantitative Systems Pharmacology-Based Digital Twins Approach Supplements Clinical Trial Data for Enzyme Replacement Therapies in Pompe Disease.

Kaddi C, Tao M, Bergeler S, et al.

Clinical pharmacology and therapeutics 2025; (117(2)):579-588 doi:10.1002/cpt.3498.

Polyglucosan storage disease in a black-capped parrot (Pionitesmelanocephalus).

Fiddes KR, Magnotti J, Armien AG, LaDouceur EEB

Journal of comparative pathology 2025; (216()):20-24 doi:10.1016/j.jcpa.2024.11.003.

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.

Kasmi Z, Ain El Hayat I, Aadam Z, et al.

BMC medical genomics 2025; (18(1)):5 doi:10.1186/s12920-024-02057-5.

Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.

Zhang X, Su Z, Wu J, et al.

Orphanet journal of rare diseases 2025; (20(1)):41 doi:10.1186/s13023-025-03570-1.

Lactylation-driven ALKBH5 diminishes macrophage NLRP3 inflammasome activation in patients with G6PT deficiency.

Su Z, Lan J, Wang Y, et al.

The Journal of allergy and clinical immunology 2025; (155(6)):1783-1799.e8 doi:10.1016/j.jaci.2025.01.028.

Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.

Schumann A, Garbade SF, Beblo S, et al.

Molecular genetics and metabolism 2025; (144(3)):109054 doi:10.1016/j.ymgme.2025.109054.

Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye.

Köse E, Özçay F, Aydın Hİ, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(4)):391-398 doi:10.1515/jpem-2024-0556.

Recurrence of Myopathy After Liver Transplantation for Patients With End-Stage GSD Type IIIa.

Wang H, Qu W, Liu Y, et al.

Transplantation proceedings 2025; (57(3)):475-480 doi:10.1016/j.transproceed.2025.02.005.

Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion.

Hamdeh MA, Jaber L, Abdullah J, et al.

JIMD reports 2025; (66(3)):e70024 doi:10.1002/jmd2.70024.

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.

Liver-Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia.

Lee C, Pratap K, Zhang L, et al.

Journal of inherited metabolic disease 2025; (48(4)):e70048 doi:10.1002/jimd.70048.

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.

Searching for Clues in the Diagnosis of McArdle Disease.

Uysal SP, Li G, Claytor BR

Cureus 2025; (17(6)):e86793 doi:10.7759/cureus.86793.

Efficacious genome editing in infant mice with glycogen storage disease type Ia.

Arnson B, Ilich E, von Beck T, et al.

JCI insight 2025; (10(18)).

Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia.

Atikcan Simsek DT, Avcı Dursun EM, Senay Ozcalik M, et al.

JCEM case reports 2025; (3(10)):luaf182 doi:10.1210/jcemcr/luaf182.

Navigating Glycogen Storage Disease: The Spiritual and Cultural Journeys of Jordanian Mothers.

Shattnawi KK, Al-Hmoud RM

Journal of religion and health 2026; (65(2)):1940-1961 doi:10.1007/s10943-025-02451-y.

Improvement of Symptoms in a Patient With Glycogen Storage Disease Through Nutritional Guidance and Exercise Therapy.

Morita T, Murakami T, Okamura E, et al.

JCEM case reports 2025; (3(11)):luaf217 doi:10.1210/jcemcr/luaf217.

Structural basis of G6P/Pi transport and inhibition in SLC37A4.

Zhou D, Zhang Y, Chen N, et al.

Nature structural & molecular biology 2025; doi:10.1038/s41594-025-01711-5.

Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.

Erdem Karapınar F, Yazıcı H, Yoldaş Çelik M, et al.

Neuropediatrics 2026; (57(2)):121-130 doi:10.1055/a-2777-2932.

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.

Safety of SGLT-2 inhibitors in patients with glycogen storage disease type Ib and their efficacy in treating disease-associated digestive symptoms and disorders.

Chen Z, Sun Z, Li G, Bu H

Acta diabetologica 2026; (63(4)):629-644 doi:10.1007/s00592-025-02627-8.

A roadmap for a patient-centred approach to Pompe disease management.

Schoser B, Domínguez-González C, Laforet P, et al.

Journal of neurology 2026; (273(2)):145.

Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores.

Paschall A, Koch RL, Mavis AM, et al.

Genetics in medicine open 2026; (4()):103455 doi:10.1016/j.gimo.2025.103455.