Glycogen Storage Disease Type II

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  Subject Areas on Research

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

  • Case, Laura Elizabeth, Associate Professor in Orthopaedic Surgery, Pediatrics, Medical Genetics
  • ElMallah, Mai, Associate Professor of Pediatrics, Cell Biology
  • Korlimarla, Aditi, Medical Instructor in the Department of Pediatrics, Pediatrics, Medical Genetics