Disease: Glycogen storage disease type 4
- A 10-Month-Old Male With a Cough, Fever, and Abnormal Hepatitis Serologies
- A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study
- A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency
- A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III
- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV
- A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum
- A novel GBE1 gene variant in a child with glycogen storage disease type IV
- A novel mouse model that recapitulates adult-onset glycogenosis type 4
- A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle
- A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV
- A surprising cause of proteinuria: Answers
- Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV
- Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency
- An uncommon cause of early infantile liver disease and raised chitotriosidase
- An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV
- Analysis of <em>GBE1</em> mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review
- 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
- Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
- Are evoked potentials in patients with adult-onset pompe disease indicative of clinically relevant central nervous system involvement?
- 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
- Branching enzyme deficiency: expanding the clinical spectrum
- Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV
- Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging
- Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
- Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
- Cochlear implantation in immunocompromised patients
- Diabetes in a Patient with Glycogen Storage Disease Type 1a
- Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
- Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature
- Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)
- Does type I truly dominate hepatic glycogen storage diseases in Korea?: a single center study
- Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center
- 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
- Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9
- Exacerbation of Myopathy in Glycogen Debrancher Deficiency After Liver Transplantation: Case Report and Review of the Literature
- Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
- Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases
- First fully laparoscopic donor hepatectomy for pediatric liver transplantation using the indocyanine green near-infrared fluorescence imaging in the Middle East: a case report
- Gene therapy for glycogen storage diseases
- Gene Therapy for Pompe Disease: The Time is now
- Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET
- Glycogen Storage Disease
- Glycogen Storage Disease
- Glycogen storage disease type IIIa in pregnant women: A guide to management
- Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation
- Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy
- Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
- Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue
- Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?
- Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient
- Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI
- Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma
- Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency
- GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease
- Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency
- Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities
- Hepatocellular type II fibrinogen inclusions in a patient with severe COVID-19 and hepatitis
- Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
- Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency
- 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
- Infant glycogen storage disease type : a clinicopathological and genetic characteristics analysis of five cases
- Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases
- Inhibition of Wnt/beta-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia
- Inhibition of Wnt/β-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia
- Intrahepatic Portal Vein Aneurysm: A Case Report of an Uncanny Late Complication of Liver Transplantation
- Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
- Liver Transplantation for Glycogen Storage Disease Type IV
- Liver transplantation in glycogen storage disease: a single-center experience
- Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study
- Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease
- Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells
- Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses
- Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model
- Neonatal Glycogen Storage Disease Type IA: A Rare Presentation
- Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient
- No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency
- Non-Progressive Hepatic Form of Andersen Disease as a Mimic of Hypertrophic Cardiomyopathy
- Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
- Novel variants in Turkish patients with glycogen storage disease
- Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation
- Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV
- Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
- Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder
- Savory Cracker Development for Blood Glucose Control and Management: Glycogen Storage Diseases
- Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
- Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series
- Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia
- Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III
- Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
- Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy
- Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X
- The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis
- The potential of dietary treatment in patients with glycogen storage disease type IV
- The Role of Physical Activity in Nonalcoholic and Metabolic Dysfunction Associated Fatty Liver Disease
- Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology
- Type IV Glycogen Storage Disease Associated With Hemophagocytic Lymphohistiocytosis: A Case Report
- Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV
- Update on polyglucosan storage diseases
- Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities
- Wernicke's Encephalopathy: A Precipitation of Glycogen Storage Disease