Disease: Glucosidase acid-1-4-alpha deficiency
- A Combined Experimental and Computational Study of Novel Benzotriazinone Carboxamides as Alpha-Glucosidase Inhibitors
- A Comprehensive Update on Late-Onset Pompe Disease
- A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management
- A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach
- AAV-mediated delivery of secreted acid alpha-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice
- AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice
- Acid alpha-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review
- Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease
- Adult Pompe disease: Analysis of 13 patients
- Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report
- Advancements in Viral Gene Therapy for Gaucher Disease
- Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy
- Antidiabetic Activity of Combination of Binahong (<em>Anredera cordifolia</em> Ten. Steenis), Cherry <em>(Muntingia calabura</em> L.) and Brotowali (<em>Tinospora crispa</em> L.) Extracts
- Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease
- Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy
- Biochemistry, Glycogenesis
- c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease
- Case report: Chronic pain in a pediatric patient with late-onset pompe disease
- Coumarin Glycosides Reverse Enterococci-Facilitated Enteric Infections
- Decoding the muscle transcriptome of patients with late onset Pompe disease reveals markers of disease progression
- Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease
- Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions
- Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
- Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS
- Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
- Early discoveries on enzyme deficiencies in lysosomal storage diseases: The Indian contribution
- Effects of enzyme replacement therapy on bone density in late onset Pompe disease
- Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis
- Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
- Enzyme immobilized on magnetic fluorescent bifunctional nanoparticles for alpha-glucosidase inhibitors virtual screening from Agrimonia pilosa Ledeb extracts accompanied with molecular modeling
- Enzyme immobilized on magnetic fluorescent bifunctional nanoparticles for α-glucosidase inhibitors virtual screening from Agrimonia pilosa Ledeb extracts accompanied with molecular modeling
- Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report
- Enzyme replacement therapy for late-onset Pompe disease
- Evaluating avalglucosidase alfa for the management of late-onset Pompe disease
- Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots
- Exploring Folklore Ecuadorian Medicinal Plants and Their Bioactive Components Focusing on Antidiabetic Potential: An Overview
- Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology
- Failure of Autophagy in Pompe Disease
- Fiber-Specific White Matter Alterations in Parkinson's Disease Patients with GBA Gene Mutations
- Fluorescence polarisation activity-based protein profiling for the identification of deoxynojirimycin-type inhibitors selective for lysosomal retaining alpha- and beta-glucosidases
- From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease
- GAA deficiency disrupts distal airway cells in Pompe disease
- GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
- Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant
- Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance
- Gaucher Disease: A Glance from a Medicinal Chemistry Perspective
- GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
- Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III
- Genome-wide association study of glucocerebrosidase activity modifiers
- Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
- Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association
- Glycogen for lysosome-targeted CpG ODNs delivery and enhanced cancer immunotherapy
- Hyaluronan-based hydrogel delivering glucose to mesenchymal stem cells intended to treat osteoarthritis
- Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry
- Identification of antidiabetic inhibitors from <em>Allophylus villosus</em> and <em>Mycetia sinensis</em> by targeting α-glucosidase and PPAR-γ: <em>In-vitro</em>, <em>in-vivo</em>, and computational evidenc
- Identification of antidiabetic inhibitors from Allophylus villosus and Mycetia sinensis by targeting alpha-glucosidase and PPAR-gamma: In-vitro, in-vivo, and computational evidence
- Identifying phenolics by UPLC-MS/MS in some Prangos Lindl. species and alpha-glucosidase inhibitory activities
- Identifying phenolics by UPLC-MS/MS in some Prangos Lindl. species and α-glucosidase inhibitory activities
- Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease
- Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease
- Increasing enzyme mannose-6-phosphate levels but not miglustat co-administration enhances the efficacy of enzyme replacement therapy in Pompe mice
- Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice
- Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
- Inhibition of cysteine protease cathepsin L increases the level and activity of lysosomal glucocerebrosidase
- Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase
- Integrative analysis highlights molecular and immune responses of tick <em>Amblyomma americanum</em> to <em>Escherichia coli</em> challenge
- Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion
- Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease
- Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy
- Loss of Lipid Carrier ApoE Exacerbates Brain Glial and Inflammatory Responses after Lysosomal GBA1 Inhibition
- Metagenomic analysis of gut microbiome illuminates the mechanisms and evolution of lignocellulose degradation in mangrove herbivorous crabs
- Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1
- Molecular mechanisms of the ambroxol action in Gaucher disease and GBA1 mutation-associated Parkinson disease
- Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives
- Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study
- Multienzyme cascades analysis of alpha-glucosidase by oxygen deficient MoO(3-x)
- Multienzyme cascades analysis of α-glucosidase by oxygen deficient MoO<sub>3-x</sub>
- Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease
- Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes
- Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy
- Pharmacokinetics of Alglucosidase Alfa Manufactured at the 4000-L Scale in Participants with Pompe Disease: A Phase 3/4 Open-Label Study
- Phosphate-Solubilizing Bacillus sp. Modulate Soil Exoenzyme Activities and Improve Wheat Growth
- Phytochemical Profiling and Biological Activities of Pericarps and Seeds Reveal the Controversy on "Enucleation" or "Nucleus-Retaining" of <em>Cornus officinalis</em> Fruits
- Polysaccharides (pectin, mucilage, and fructan inulin) and their fermented products: A critical analysis of their biochemical, gut interactions, and biological functions as antidiabetic agents
- Population Pharmacokinetic Modeling and Determination of Individual Exposure to Avalglucosidase Alfa in Adolescent and Adult Patients With Late-Onset Pompe Disease: Analysis of Pooled Data From Phase I to III Clinical Trials
- Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa
- Primary Multiglandular Parathyroid Disease in the Setting of Pompe Disease
- PRKCSH contributes to TNFSF resistance by extending IGF1R half-life and activation in lung cancer
- Production of highly water-soluble genistein α-diglucoside using an engineered O-α-glycoligase with enhanced transglycosylation activity and altered substrate specificity
- Progress in experimental models to investigate the in vivo and in vitro antidiabetic activity of drugs
- Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
- Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database
- Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
- Reduced progranulin increases tau and α-synuclein inclusions and alters mouse tauopathy phenotypes via glucocerebrosidase
- RNAseq analysis of <em>Cellvibrio japonicus</em> during starch utilization differentiates between genes encoding carbohydrate active enzymes controlled by substrate detection or growth rate
- Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease
- Small molecule inhibition of glycogen synthase I reduces muscle glycogen content and improves biomarkers in a mouse model of Pompe disease
- Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver
- Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy