Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report.

Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study.

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

CHK1 inhibition rescues abnormal glycogen buildup in a Caenorhabditis elegans model for glycogen storage disease III.

Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation.

Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).

Glucose-6-phosphate transporter deficiency (GSD type Ib) in an infant with an ominous outcome.

Structures of human glucose-6-phosphate transporter reveal reciprocal antiport mechanism driving glucose-6-phosphate and inorganic phosphate exchange.

Persistent Activation of Renal Autophagy Contributes to Nephropathy in Murine Glycogen Storage Disease Type Ia.

Structural basis of glucose-6-phosphate transport by human SLC37A2.

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

Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.

Novel murine model provides insights into early-onset of kidney disease in glycogen storage disease type Ib.

Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.

Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study.

Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.

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

[Application of active glucose monitoring in the perioperative period of gastrointestinal endoscopy in children with glycogen storage disease type Ⅰb].

Is primary hemostasis involved in bleeding diathesis in patients with type 1 glycogen storage disease?

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

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

The Wnt/β-catenin signaling pathway mediates renal fibrosis in glycogen storage disease type Ib nephropathy.

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.

Clinical characteristics of 50 hepatocellular adenoma patients among 164 cases of glycogen storage disease type Ia.

Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.

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

Laparoscopic Liver Resection for Hepatocellular Adenomas in Pediatric Glycogen Storage Disease Type Ia: A Case With Consideration for Future Transplantation.

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

Spontaneous restoration of premature ovarian insufficiency and conception in a patient with glycogen storage disease type 1b managed with empagliflozin.

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

Genetic background of selected hyperuricemia causing gout with pediatric onset.

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia.

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

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.

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

[Clinical analysis and follow-up outcomes of 25 pediatric cases with hepatic glycogen storage disease].

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

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

Phenylbutyric Acid Modulates Apoptosis and ER Stress-Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model.

A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.

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

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

Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production.

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

Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization.

SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression.

Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.

Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results.

A specific serum lipid signature characterizes patients with glycogen storage disease type Ia.

Outcomes of Pediatric Liver Transplantation in Glycogen Storage Disease Type 1b-A Single-Center Experience.

Isolated short stature as the only presenting symptom of glycogen storage disease type 0a in a Chinese child: A case report.

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

Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia.

Successful Anesthetic Management of an Adult Patient With Glycogen Storage Disease Type 1 During Liver Transplant: A Case Report.

Case report: The success of empagliflozin therapy for glycogen storage disease type 1b.

Gut Dysbiosis Drives Inflammatory Bowel Disease Through the CCL4L2-VSIR Axis in Glycogen Storage Disease.

Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism.

[Investigation on the treatment of empagliflozin in glycogen storage disease type Ⅰb].

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.

A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.

Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.

Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

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

Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.

Intestinal microbiota composition of children with glycogen storage Type I patients.

DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia.

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.

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

Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment.

Diabetes in a Patient with Glycogen Storage Disease Type 1a.

Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.

Efficient and reproducible generation of human induced pluripotent stem cell-derived expandable liver organoids for disease modeling.

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.

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

Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report.

Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib.

[A case report of glycogen storage disease type 1a].

Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation.

A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.

Aberrant glucose metabolism underlies impaired macrophage differentiation in glycogen storage disease type Ib.

Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage disease (type Ib and II).

Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-2H2]-glucose.

Glycogen storage diseases.

[Dental rehabilitation in a young patient with glycogen storage disease type 1B].

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

Long-Term Treatment of Lipoprotein Lipase Deficiency with Medium-Chain Triglyceride-Enriched Diet: A Case Series.

Systematic literature review of the epidemiology of glycogen storage disease type 1a.

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

Gene therapy for glycogen storage diseases.

Glycogen Storage Disease Type IXb in a 3-y-old Child.

Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition.

[Short-term efficacy of empagliflozin in children with glycogen storage disease type Ⅰb].

A case of glycogen storage disease type Ⅰa with gout as the first manifestation.

Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia.

Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.

CT findings of glycogen storage disease I complicated with pancreatitis: A case report.

Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.

Gene therapy and genome editing for type I glycogen storage diseases.

Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells.

Persistent acidosis and chronic kidney disease in a patient with type 1 glycogen storage disease.

Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test.

Urine-Derived Epithelial Cells as a New Model to Study Renal Metabolic Phenotypes of Patients with Glycogen Storage Disease 1a.

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report.

Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies.

Parenteral Exposure of Mice to Ricin Toxin Induces Fatal Hypoglycemia by Cytokine-Mediated Suppression of Hepatic Glucose-6-Phosphatase Expression.

Genetics of severe congenital neutropenia as a gateway to personalized therapy.

Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?

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

Intestinal stricture in a patient with glycogen storage disease type Ib and inflammatory bowel disease.

A glycogen storage disease type 1a patient with type 2 diabetes.

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.

Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report.

Assessment of auditory functions in patients with hepatic glycogen storage diseases.

[Clinical characteristics and genetic analysis of a Chinese pedigree affected by glycogen storage disease type Ia with gout as the first manifestation].

[Peripheral neuropathy caused by vitamin B12 deficiency in a patient with glycogen storage disease type Ⅰa].

Studies on glycogen storage disease type 1a animal models: a brief perspective.

Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib.

Body composition in patients with hepatic glycogen storage diseases.

SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency.

Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.

Dapagliflozin Prevents Kidney Glycogen Accumulation and Improves Renal Proximal Tubule Cell Functions in a Mouse Model of Glycogen Storage Disease Type 1b.

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review.

A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.

Development of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia.

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

Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.

Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib.

Liver transplantation in glycogen storage disease: a single-center experience.

First report of suspected glycogen storage disease type 1a occurring in an adult dog.

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.

Secondary diabetes as a rare complication of glycogen storage disease 1a: case report and review of literature.

Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.

Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.

Biophysical and functional properties of purified glucose-6-phosphatase catalytic subunit 1.

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

Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.

Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism.

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.

Glycogen storage disease type I patients with hyperlipidemia have no signs of early vascular dysfunction and premature atherosclerosis.

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.

Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A).

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

A Multidisciplinary Approach for Tophi Wounds Caused by Glycogen Storage Disease Type 1a: A Rare Case.

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

Empagliflozin ameliorated neutropenia in a girl with glycogen storage disease Ib.

Immunological features and complications in patients with glycogen storage disease 1b after living donor liver transplantation.

Infliximab treatment of glycogenosis Ib with Crohn's-like enterocolitis: A case report.

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report.

Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR-associated protein 9-Mediated Gene Editing.

[Chinese experts consensus on diagnosis and treatment of glycogen storage disease type Ⅱ in children].

Neurological Characteristics of Pediatric Glycogen Storage Disease.

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

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

LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE.

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.

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

Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.

SGLT2 inhibition alleviated hyperglycemia, glucose intolerance, and dumping syndrome-like symptoms in a patient with glycogen storage disease type Ia: a case report.

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

ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I.

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

Periodontal Manifestation of Type Ib Glycogen Storage Disease: A Rare Case Report.

Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population.

Case 38-2020: A 52-Year-Old Man with Cancer and Acute Hypoxemia.

Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a.

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

tert-Butyl Hydroperoxide (tBHP)-Induced Lipid Peroxidation and Embryonic Defects Resemble Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in C. elegans.

Lipid status and linear relationship between total cholesterol and triglycerides in glycogen storage disease type I.

A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature.

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

Long-term outcome after liver transplantation in children with type 1 glycogen storage disease.

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients.

[A case of glycogen storage disease type Ⅰa with gout as the main clinical manifestation].

When sugar isn't sweet: neutropenia in GSD-Ib.

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.

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

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

Tumorigenic Potential of Granulocyte Colony-Stimulating Factor Therapy-A Case Report and Review of Literature.

Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency.

Circulating exosomal microRNAs as potential biomarkers of hepatic injury and inflammation in a murine model of glycogen storage disease type 1a.

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

An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia.

Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia.

Glycogen Storage Disease Type I (Von Gierke disease): Report of Two Cases with Severe Dyslipidemia.

View from inside: Nina, Glycogen storage disease warrior.

Novel variants in Turkish patients with glycogen storage disease.

Hepatocellular carcinoma with glycogen storage disease type 1a.

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort.

Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.

Persistent hypoglycemia: Glycogen storage disease type Ib.