Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study.

Biopsy-Proven Reversal of F4 Cirrhosis in Classic Hepatic Glycogen Storage Disease Type IV: A 42-Year Follow-Up Without Transplantation.

Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IV.

Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.

Noninfectious endocarditis as a novel cardiac manifestation of glycogen storage disease type IV: a case report.

Urinary tetraglucoside excretion as a biomarker in liver glycogen storage diseases.

Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3.

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy.

Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.

Galectin-3: a novel biomarker of glycogen storage disease type III.

Is Brazil following global trends in high-cost treatments? The case of Pompe Disease.

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.

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

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

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

Exacerbation of Myopathy in Glycogen Debrancher Deficiency After Liver Transplantation: Case Report and Review of the Literature.

Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV.

Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

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

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.

[Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases].

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.

A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Savory Cracker Development for Blood Glucose Control and Management: Glycogen Storage Diseases.

Neonatal Glycogen Storage Disease Type IA: A Rare Presentation.

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

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV.

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.

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

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center.

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

Wernicke's Encephalopathy: A Precipitation of Glycogen Storage Disease.

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene.

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

Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory.

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.

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

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.

Glycogen storage disease type IIIa in pregnant women: A guide to management.

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

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.

A surprising cause of proteinuria: Answers.

The Role of Physical Activity in Nonalcoholic and Metabolic Dysfunction Associated Fatty Liver Disease.

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.

Liver Transplantation for Glycogen Storage Disease Type IV.

Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.

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

Non-Progressive Hepatic Form of Andersen Disease as a Mimic of Hypertrophic Cardiomyopathy.

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

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

Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency.

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

An uncommon cause of early infantile liver disease and raised chitotriosidase.

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

Hepatocellular type II fibrinogen inclusions in a patient with severe COVID-19 and hepatitis.

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Novel variants in Turkish patients with glycogen storage disease.

Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9.

No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency.

Mtrr hypomorphic mutation alters liver morphology, metabolism and fuel storage in mice.

Type IV Glycogen Storage Disease Associated With Hemophagocytic Lymphohistiocytosis: A Case Report.

Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET.

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy.

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

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

Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient.

Update on polyglucosan storage diseases.

Gene Therapy for Pompe Disease: The Time is now.

Gene therapy for glycogen storage diseases.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV.

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.

Guaiacol as a drug candidate for treating adult polyglucosan body disease.

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study.

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV.

Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient.

A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency.

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV).

A 10-Month-Old Male With a Cough, Fever, and Abnormal Hepatitis Serologies.

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

A novel GBE1 gene variant in a child with glycogen storage disease type IV.

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases.

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III.

First fully laparoscopic donor hepatectomy for pediatric liver transplantation using the indocyanine green near-infrared fluorescence imaging in the Middle East: a case report.

Does type I truly dominate hepatic glycogen storage diseases in Korea?: a single center study.