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.

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

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

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

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

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

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

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

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

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

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.

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.

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

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

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.

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

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.

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

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.

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

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.

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

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

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.

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.

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).

Glycogen storage diseases.

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

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

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.

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

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

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.

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

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

Body composition in patients with hepatic glycogen storage diseases.

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.

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

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

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.

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

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

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.

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

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.

Neurological Characteristics of Pediatric Glycogen Storage Disease.

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

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.

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

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.

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

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.

Glucose-6-phosphate transporter mediates macrophage proliferation and functions by regulating glycolysis and mitochondrial respiration.

Glycogen storage disease type Ib: role of glucose-6-phosphate transporter in cell metabolism and function.

Inborn errors of metabolite repair.

Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib.

Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.

Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib.

PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1.

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

CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.

Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.

Development and characterization of an inducible mouse model for glycogen storage disease type Ib.

Case 5: Abdominal Distention, Poor Growth, and Motor Delay in a 1-year-old Girl.

Molecular biology and gene therapy for glycogen storage disease type Ib.

Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length.

Matched unrelated donor transplantation in glycogen storage disease type 1b patient corrects severe neutropenia and recurrent infections.

Aberrant proliferation and differentiation of glycogen storage disease type Ib mesenchymal stem cells.

Liver-directed gene therapy for murine glycogen storage disease type Ib.

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

[Crohn's disease in glycogen storage disease type I b: a case report].

Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib.

Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration.

Rapid height growth after liver transplantation in adulthood.

FDG PET/CT in Type I Glycogen Storage Disease.

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

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.

Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b.

A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.