Glycogen Storage Disease Type II
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Subject Areas on Research
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A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.
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A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.
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A randomized study of alglucosidase alfa in late-onset Pompe's disease.
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A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
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A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.
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Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.
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Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease.
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Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease.
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Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease.
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Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.
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Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
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Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.
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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
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An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.
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Anaesthetic management of infants with glycogen storage disease type II: a physiological approach.
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Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry.
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Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease.
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Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.
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Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease.
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Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
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Atypical immunologic response in a patient with CRIM-negative Pompe disease.
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Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.
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Basilar artery aneurysm: a new finding in classic infantile Pompe disease.
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Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.
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Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.
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Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.
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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
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Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.
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Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.
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Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
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Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.
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Characterization of gait in late onset Pompe disease.
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Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.
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Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
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Chorionic villus ultrastructure in type II glycogen storage disease (Pompe's disease).
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Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
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Clinical and histologic ocular findings in pompe disease.
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Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
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Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease: a case report.
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Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.
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Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.
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Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.
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Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease.
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Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.
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Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.
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Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter.
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Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.
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Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.
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Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
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Death from supine asphyxia in late onset pompe disease: Two patients.
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Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand..
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Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
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Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.
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Diagnostic criteria for late-onset (childhood and adult) Pompe disease.
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Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.
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Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.
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Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease.
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Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.
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Early cognitive development in children with infantile Pompe disease.
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Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
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Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
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Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.
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Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.
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Efficacious Androgen Hormone Administration in Combination with Adeno-Associated Virus Vector-Mediated Gene Therapy in Female Mice with Pompe Disease.
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Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
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Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction.
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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.
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Electrocardiographic response to enzyme replacement therapy for Pompe disease.
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Elimination of antibodies to recombinant enzyme in Pompe's disease.
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Enhanced efficacy from gene therapy in Pompe disease using coreceptor blockade.
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Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.
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Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.
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Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.
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Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
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Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.
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Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
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Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.
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Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation.
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Fractures in children with Pompe disease: a potential long-term complication.
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Fully deleted adenovirus persistently expressing GAA accomplishes long-term skeletal muscle glycogen correction in tolerant and nontolerant GSD-II mice.
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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
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Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.
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Glycogen accumulation in smooth muscle of a Pompe disease mouse model.
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Glycogen storage disease types I and II: treatment updates.
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Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
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Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.
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HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA).
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Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
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High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.
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High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.
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Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
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How common is misdiagnosis in late-onset Pompe disease?
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Hydrostatic isolated limb perfusion with adeno-associated virus vectors enhances correction of skeletal muscle in Pompe disease.
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INTERMEDIATE UVEITIS WITH RETINAL DETACHMENT IN A PATIENT WITH POMPE DISEASE.
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Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
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Immune modulation in Pompe disease treated with enzyme replacement therapy.
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Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine pompe disease.
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Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.
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Immunomodulatory, liver depot gene therapy for Pompe disease.
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Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression.
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Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.
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Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.
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Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease.
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Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.
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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
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Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease.
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Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.
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Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
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Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease.
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Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.
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Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
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Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.
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Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.
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Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector.
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Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice.
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Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.
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Longitudinal polysomnographic findings in infantile Pompe disease.
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Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.
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Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.
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Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
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Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
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Minimum Effective Dose to Achieve Biochemical Correction with Adeno-Associated Virus Vector-Mediated Gene Therapy in Mice with Pompe Disease.
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Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
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Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
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Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.
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Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.
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Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice.
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New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.
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Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.
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Novel approaches to quantify CNS involvement in children with Pompe disease.
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Obstructive sleep apnea in late-onset Pompe disease treated by enzyme replacement therapy.
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Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.
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Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.
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Oropharyngeal dysphagia in infants and children with infantile Pompe disease.
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Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement.
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PRKAG2 mutations presenting in infancy.
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Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector.
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Peripheral nerve and neuromuscular junction pathology in Pompe disease.
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Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.
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Physical therapy management of Pompe disease.
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Polysomnographic findings in infantile Pompe disease.
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Pompe disease diagnosis and management guideline.
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Pompe disease gene therapy.
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Pompe disease in infants and children.
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Pompe disease in infants: improving the prognosis by newborn screening and early treatment.
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Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.
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Pompe disease: design, methodology, and early findings from the Pompe Registry.
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Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
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Preclinical Development of New Therapy for Glycogen Storage Diseases.
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Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
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Premature pubarche in children with Pompe disease.
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Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
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Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.
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Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
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Purification of recombinant human precursor acid alpha-glucosidase.
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Quantitative assessment of lingual strength in late-onset Pompe disease.
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Quantitative computed tomography for enzyme replacement therapy in Pompe disease.
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Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.
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Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
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Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
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Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
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Reduction of Autophagic Accumulation in Pompe Disease Mouse Model Following Gene Therapy.
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Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.
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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.
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Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.
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Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial.
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Response to the letter "How to describe the clinical spectrum in Pompe disease?".
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Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.
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Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
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Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
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Salmeterol enhances the cardiac response to gene therapy in Pompe disease.
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Salmeterol with Liver Depot Gene Therapy Enhances the Skeletal Muscle Response in Murine Pompe Disease.
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Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
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Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.
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Sibling phenotype concordance in classical infantile Pompe disease.
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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
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Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.
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Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.
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Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines.
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Successful combined liver/kidney transplantation from a donor with Pompe disease.
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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.
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Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice.
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Synergistic Efficacy from Gene Therapy with Coreceptor Blockade and a β2-Agonist in Murine Pompe Disease.
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Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.
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Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase.
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The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.
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The Respiratory Phenotype of Pompe Disease Mouse Models.
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The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings.
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The emerging phenotype of late-onset Pompe disease: A systematic literature review.
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The emerging phenotype of long-term survivors with infantile Pompe disease.
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The impact of Pompe disease on smooth muscle: a review.
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The impact of antibodies in late-onset Pompe disease: a case series and literature review.
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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.
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The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.
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The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.
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The potential impact of timing of IVIG administration on the efficacy of rituximab for immune tolerance induction for patients with Pompe disease.
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The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.
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The respiratory neuromuscular system in Pompe disease.
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The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease.
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The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
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Thenar Hypertrophy and Electrical Myotonia in Pompe Disease.
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Therapeutic Benefit of Autophagy Modulation in Pompe Disease.
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Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
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Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
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Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.
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Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.
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Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
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Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.
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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
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Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease).
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Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.
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Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
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What's new and what's next for gene therapy in Pompe disease?
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Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.
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[Not Available].
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β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.
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Keywords of People
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Case, Laura Elizabeth,
Associate Professor in Orthopaedic Surgery,
Pediatrics, Medical Genetics
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ElMallah, Mai,
Associate Professor of Pediatrics,
Cell Biology
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Korlimarla, Aditi,
Medical Instructor in the Department of Pediatrics,
Pediatrics, Medical Genetics