| Q39881262 | A 62-year-old man with dyspnea. |
| Q42949109 | A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2. |
| Q36061849 | A conceptual disease model for adult Pompe disease |
| Q36342315 | A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations |
| Q36705466 | Acid alpha-glucosidase deficiency (Pompe disease). |
| Q84971387 | Adult-Onset Acid Maltase Deficiency With Isolated Axial Muscle Involvement |
| Q57390145 | Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited |
| Q91655909 | Advancements in AAV-mediated Gene Therapy for Pompe Disease |
| Q30456189 | Alglucosidase alfa and Pompe disease: still going strong? |
| Q64899504 | Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease. |
| Q58905406 | Autophagy Mechanism, Regulation, Functions, and Disorders |
| Q37219555 | Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease |
| Q38015977 | Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature |
| Q35848728 | Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening |
| Q39175420 | Bent spine syndrome as the initial symptom of late-onset Pompe disease. |
| Q34628997 | Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy |
| Q38745211 | Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease |
| Q51771787 | Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. |
| Q40537592 | Characterization of gait in late onset Pompe disease |
| Q36911229 | Childhood Pompe disease: clinical spectrum and genotype in 31 patients |
| Q42126616 | Clinical Analysis of Algerian Patients with Pompe Disease. |
| Q37414501 | Clinical consequences of reduced dosing schedule during treatment of a patient with Pompe's disease |
| Q42787777 | Clinical features of Pompe disease |
| Q34634354 | Consensus treatment recommendations for late-onset Pompe disease |
| Q92549228 | Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease |
| Q47121756 | Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease |
| Q44767256 | Diagnosis and therapy of late onset Pompe disease |
| Q35809528 | Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group |
| Q31055021 | Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial |
| Q41558307 | Effect of enzyme replacement therapy (ERT) added to Home Mechanical Ventilation (HMV) in Adult Pompe disease. |
| Q54310178 | Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up. |
| Q57705436 | Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease—a long-term follow-up |
| Q36459627 | Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study |
| Q42674306 | Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study |
| Q51718537 | Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study. |
| Q47873914 | Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD). |
| Q38089858 | Enzymatic and molecular strategies to diagnose Pompe disease |
| Q45382449 | Enzyme replacement therapy and fatigue in adults with Pompe disease |
| Q94355648 | Enzyme replacement therapy for late‐onset Pompe disease |
| Q39287288 | European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. |
| Q38155413 | Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature |
| Q33666033 | Fatigue in neuromuscular disorders: focus on Guillain-Barré syndrome and Pompe disease |
| Q37425960 | Fatigue: an important feature of late-onset Pompe disease |
| Q51656691 | Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease. |
| Q90022892 | Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles |
| Q37518707 | Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents |
| Q84443035 | Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells |
| Q62723342 | Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program |
| Q34598948 | Genotype-phenotype correlation in Pompe disease, a step forward. |
| Q48004397 | Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology |
| Q92431110 | Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature |
| Q43065230 | Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease. |
| Q38751652 | Human-Induced Pluripotent Stem Cell-Based Modeling of Cardiac Storage Disorders |
| Q37064192 | Hypothyroidism in late-onset Pompe disease |
| Q41608802 | Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients |
| Q49941117 | Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease |
| Q39390119 | Imaging of Left Ventricular Hypertrophy: a Practical Utility for Differential Diagnosis and Assessment of Disease Severity |
| Q36758919 | Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study |
| Q50131827 | Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders |
| Q64122273 | Improved efficacy of a next-generation ERT in murine Pompe disease |
| Q41901211 | Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients. |
| Q61851023 | Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study |
| Q36617386 | In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography |
| Q37976643 | Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. |
| Q57225633 | Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy |
| Q47670496 | Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant |
| Q47767770 | Inspiratory Muscle Training in Late-Onset Pompe Disease: The Effects on Pulmonary Function Tests, Quality of Life, and Sleep Quality |
| Q64069246 | Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study |
| Q79252232 | Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease |
| Q33908205 | Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience |
| Q53099318 | Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. |
| Q47102959 | Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases |
| Q90322860 | Long-Term Observation of the Safety and Effectiveness of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance |
| Q51795429 | Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. |
| Q64042342 | Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II |
| Q35595602 | Lung MRI and impairment of diaphragmatic function in Pompe disease |
| Q92158966 | Mobility assessment using wearable technology in patients with late-onset Pompe disease |
| Q35918784 | Modifying the Medical Research Council grading system through Rasch analyses |
| Q92487767 | Molecular genetics of Pompe disease: a comprehensive overview |
| Q34171682 | Molecular genetics of late onset glycogen storage disease II in Italy |
| Q24300206 | Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II |
| Q38569863 | Myositis Mimics |
| Q64047157 | Neuromuscular disorders: orphan diseases deserve attention |
| Q39618110 | New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy |
| Q92487786 | Nutrition and exercise in Pompe disease |
| Q50790826 | Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. |
| Q51547323 | Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years. |
| Q45867211 | Oral administration of recombinant human acid α-glucosidase reduces specific antibody formation against enzyme in mouse |
| Q59101371 | Orthopedic management of patients with Pompe disease: a retrospective case series of 8 patients |
| Q43710124 | Pain in adult patients with Pompe disease: a cross-sectional survey |
| Q37623192 | Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency |
| Q30558083 | Phenotypical variation within 22 families with Pompe disease |
| Q36479980 | Physical therapy management of Pompe disease |
| Q84819522 | Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients |
| Q38800985 | Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel |
| Q48179948 | Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. |
| Q45898753 | Pompe disease, the must-not-miss diagnosis: A report of 3 patients. |
| Q57639968 | Pompe disease: Design, methodology, and early findings from the Pompe Registry |
| Q92487841 | Pompe disease: what are we missing? |
| Q37302098 | Pompe's disease |
| Q51504548 | Postoperative acute respiratory failure caused by adult-onset Pompe disease. |
| Q28067387 | Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease |
| Q99548928 | Pregnancy Outcomes in Late Onset Pompe Disease |
| Q45857382 | Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. |
| Q41176219 | Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II |
| Q35956846 | Public support for neonatal screening for Pompe disease, a broad-phenotype condition |
| Q30464271 | Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency |
| Q36582225 | Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up |
| Q27334864 | Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI |
| Q47190390 | Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy |
| Q41897772 | Quantitative analysis of upright standing in adults with late-onset Pompe disease. |
| Q51021056 | Rapid progressive course of later-onset Pompe disease in Chinese patients. |
| Q53130969 | Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report. |
| Q87352158 | Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease |
| Q30317955 | Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months |
| Q53418482 | Search for Pompe disease among patients with undetermined myopathies. |
| Q45972852 | Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. |
| Q24649086 | Side-alternating vibration training improves muscle performance in a patient with late-onset pompe disease |
| Q30421643 | Small-molecule structure correctors target abnormal protein structure and function: structure corrector rescue of apolipoprotein E4-associated neuropathology |
| Q39616879 | Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. |
| Q35102705 | Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy |
| Q51236198 | Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. |
| Q59358757 | Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease |
| Q37345062 | Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice |
| Q38238918 | Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease |
| Q92605287 | The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease |
| Q43121611 | The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease |
| Q38968071 | The emerging phenotype of late-onset Pompe disease: A systematic literature review |
| Q64257403 | The impact of Pompe disease on smooth muscle: a review |
| Q38542031 | The infantile-onset form of Pompe disease: an autopsy diagnosis |
| Q43253618 | The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase |
| Q44468327 | The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry |
| Q35754407 | The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients |
| Q39663434 | The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease |
| Q39663459 | Toward deconstructing the phenotype of late-onset Pompe disease. |
| Q94553548 | Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort |
| Q43144924 | Visual hallucinations in a patient with adult onset acid maltase deficiency disorder |
| Q88831769 | Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? |
| Q64047278 | [Glycogenesis Type II (M. Pompe). Selective failure of the respiratory musculature--a rare first symptom] |