Research & Literature

Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.

Zhang B, Zeng X

Clinical rheumatology 2016; (35(11)):2851-2856 doi:10.1007/s10067-016-3290-1.

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder.

Oster Y, Wexler ID, Heyman SN, Fried E

Case reports in medicine 2016; (2016()):4362743 doi:10.1155/2016/4362743.

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control.

Dambska M, Labrador EB, Kuo CL, Weinstein DA

Pediatric diabetes 2017; (18(5)):327-331 doi:10.1111/pedi.12540.

Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.

Okechuku GO, Shoemaker LR, Dambska M, et al.

Journal of inherited metabolic disease 2017; (40(5)):703-708 doi:10.1007/s10545-017-0054-2.

Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia.

Hijmans BS, Boss A, van Dijk TH, et al.

Hepatology (Baltimore, Md.) 2017; (66(6)):2042-2054 doi:10.1002/hep.29389.

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.

Hepatic glucose-6-phosphatase-α deficiency leads to metabolic reprogramming in glycogen storage disease type Ia.

Cho JH, Kim GY, Mansfield BC, Chou JY

Biochemical and biophysical research communications 2018; (498(4)):925-931 doi:10.1016/j.bbrc.2018.03.083.

Recent development and gene therapy for glycogen storage disease type Ia.

Chou JY, Kim GY, Cho JH

Liver research (Beijing, China) 2017; (1(3)):174-180 doi:10.1016/j.livres.2017.12.001.

Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al.

Brooks ED, Kishnani PS, Koeberl DD

Journal of inherited metabolic disease 2018; (41(6)):913-914 doi:10.1007/s10545-018-0248-2.

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.

Waskowicz LR, Zhou J, Landau DJ, et al.

Human molecular genetics 2019; (28(1)):143-154 doi:10.1093/hmg/ddy343.

[Hyperlactatemia induced by inhaled β2 agonists: An underrecognized side effect. Report of two cases].

David C, Pouchot J, Ranque B

La Revue de medecine interne 2019; (40(6)):400-403 doi:10.1016/j.revmed.2018.11.010.

[Exome diagnostics in neurology].

Zech M, Wagner M, Schormair B, et al.

Der Nervenarzt 2019; (90(2)):131-137 doi:10.1007/s00115-018-0667-1.

Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia.

Kang HR, Waskowicz L, Seifts AM, et al.

Molecular therapy. Methods & clinical development 2019; (13()):265-273 doi:10.1016/j.omtm.2019.02.002.

A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.

Wang W, Yu R, Tan W, et al.

BMC medical genetics 2019; (20(1)):85 doi:10.1186/s12881-019-0816-9.

Genetic Studies of Tic Disorders and Tourette Syndrome.

Qi Y, Zheng Y, Li Z, et al.

Methods in molecular biology (Clifton, N.J.) 2019; (2011()):547-571 doi:10.1007/978-1-4939-9554-7_32.

A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.

Zhou J, Waskowicz LR, Lim A, et al.

Thyroid : official journal of the American Thyroid Association 2019; (29(8)):1158-1167 doi:10.1089/thy.2019.0007.

Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review.

Dahlberg KR, Ferrecchia IA, Dambska-Williams M, et al.

Journal of inherited metabolic disease 2020; (43(2)):269-278 doi:10.1002/jimd.12160.

Glucose-6 Phosphate, A Central Hub for Liver Carbohydrate Metabolism.

Rajas F, Gautier-Stein A, Mithieux G

Metabolites 2019; (9(12)) doi:10.3390/metabo9120282.

Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease.

Kang HR, Gjorgjieva M, Smith SN, et al.

Molecular therapy. Methods & clinical development 2019; (15()):383-391 doi:10.1016/j.omtm.2019.10.016.

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.

Kim YM, Choi JH, Lee BH, et al.

Orphanet journal of rare diseases 2020; (15(1)):45 doi:10.1186/s13023-020-1321-0.

Emerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A review.

Cho JH, Weinstein DA, Lee YM

Journal of inherited metabolic disease 2021; (44(1)):118-128 doi:10.1002/jimd.12267.

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.

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.

Liang Y, Du C, Wei H, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1444 doi:10.1002/mgg3.1444.

Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.

Arnaoutova I, Zhang L, Chen HD, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2021; (29(4)):1602-1610 doi:10.1016/j.ymthe.2020.12.027.

Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.

Hoogerland JA, Peeks F, Hijmans BS, et al.

Journal of inherited metabolic disease 2021; (44(4)):879-892 doi:10.1002/jimd.12380.

Type la glycogen storage disease complicated with diabetes mellitus: the role of flash continuous glucose monitoring.

Marcalo J, Oliveira A, Nunes PA, do Vale S

BMJ case reports 2021; (14(3)) doi:10.1136/bcr-2020-240489.

A case study of glycogen storage disease type Ia presenting with multiple hepatocellular adenomas: an analysis by gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid magnetic resonance imaging.

Li X, Jing H, Cheng L, et al.

Quantitative imaging in medicine and surgery 2021; (11(6)):2785-2791 doi:10.21037/qims-20-746.

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.

Monteiro VCL, de Oliveira BM, Dos Santos BB, et al.

Orphanet journal of rare diseases 2021; (16(1)):254 doi:10.1186/s13023-021-01877-3.

Hepatocyte-specific glucose-6-phosphatase deficiency disturbs platelet aggregation and decreases blood monocytes upon fasting-induced hypoglycemia.

La Rose AM, Bazioti V, Hoogerland JA, et al.

Molecular metabolism 2021; (53()):101265 doi:10.1016/j.molmet.2021.101265.

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.

Multidisciplinary management of pregnancy and labour in a patient with glycogen storage disease type 1a.

Jones AM, Tower C, Green D, Stepien KM

BMJ case reports 2021; (14(8)) doi:10.1136/bcr-2020-241161.

Impact of glycogen storage disease type I on adult daily life: a survey.

Garbade SF, Ederer V, Burgard P, et al.

Orphanet journal of rare diseases 2021; (16(1)):371 doi:10.1186/s13023-021-02006-w.

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Derks TGJ, Rodriguez-Buritica DF, Ahmad A, et al.

Nutrients 2021; (13(11)) doi:10.3390/nu13113828.

Serum sex hormone-binding globulin levels are reduced and inversely associated with intrahepatic lipid content and saturated fatty acid fraction in adult patients with glycogen storage disease type 1a.

Simons PIHG, Valkenburg O, Telgenkamp I, et al.

Journal of endocrinological investigation 2022; (45(6)):1227-1234 doi:10.1007/s40618-022-01753-2.

Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature.

Xu N, Han X, Zhang Y, et al.

Arthritis research & therapy 2022; (24(1)):58 doi:10.1186/s13075-021-02706-5.

Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?

Steg Saban O, Pode-Shakked B, Abu-Libdeh B, et al.

European journal of medical genetics 2022; (65(6)):104518 doi:10.1016/j.ejmg.2022.104518.

Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone.

Wu S, Guo S, Fu L, et al.

Frontiers in pediatrics 2022; (10()):921323 doi:10.3389/fped.2022.921323.

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.

A patient with glycogen storage disease type IA combined with hepatic adenoma: A case report.

Yin M, Chang L, Jiang P, et al.

Genes & diseases 2023; (10(3)):701-704 doi:10.1016/j.gendis.2022.08.002.

CRISPR/Cas9-based double-strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type-Ia.

Samanta A, George N, Arnaoutova I, et al.

Journal of inherited metabolic disease 2023; (46(6)):1147-1158 doi:10.1002/jimd.12660.

Inhibition of Wnt/β-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia.

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

Biochimica et biophysica acta. Molecular basis of disease 2024; (1870(1)):166874 doi:10.1016/j.bbadis.2023.166874.

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.

Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report.

Takahashi T, Oue K, Imado E, et al.

JA clinical reports 2023; (9(1)):91 doi:10.1186/s40981-023-00683-z.

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.

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.

Lai G, Gu Q, Lai Z, et al.

Frontiers in pediatrics 2024; (12()):1448895 doi:10.3389/fped.2024.1448895.

Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.

Arnaoutova I, Aratyn-Schaus Y, Zhang L, et al.

Nature communications 2024; (15(1)):9729 doi:10.1038/s41467-024-54108-1.

Effects of enteral nutrition in stroke: an updated review.

Jiang D, Nie L, Xiang X, et al.

Frontiers in nutrition 2025; (12()):1510111 doi:10.3389/fnut.2025.1510111.

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.

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)).

Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.

Akyüz A, Okur İ, Tümer L, et al.

European journal of pediatrics 2025; (184(9)):540.

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.

[Follow-up of patients with nasogastric tube who were hospitalized in a long-term care hospital to analyze the current situation and role of nasogastric tube placement].

Niwano M, Nakatani H

Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics 2025; (62(4)):390-398 doi:10.3143/geriatrics.62.390.

Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.

Xiao R, Gross-Valle C, Gerding A, et al.

Journal of translational medicine 2026; (24(1)).