| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | Henk D. Bakker | Q110409535 |
| Ans van der Ploeg | Q88008512 | ||
| Arnold J J Reuser | Q92163572 | ||
| P2093 | author name string | Jan A M Smeitink | |
| G Peter A Smit | |||
| M Christa B Loonen | |||
| Wim Hop | |||
| Hannerieke M P van den Hout | |||
| Johannis B C de Klerk | |||
| Otto P van Diggelen | |||
| Bwee-Tien T Poll-The | |||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 332-340 | |
| P577 | publication date | 2003-08-01 | |
| P1433 | published in | Pediatrics | Q7159238 |
| P1476 | title | The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature | |
| P478 | volume | 112 |
| Q42677230 | A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells |
| 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 |
| Q54586139 | A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. |
| Q42003051 | A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease |
| Q37290516 | A review of treatment of Pompe disease in infants |
| Q36944847 | A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease |
| Q36705466 | Acid alpha-glucosidase deficiency (Pompe disease). |
| Q91655909 | Advancements in AAV-mediated Gene Therapy for Pompe Disease |
| Q64066498 | Advances in imaging of brain abnormalities in neuromuscular disease |
| Q45882322 | Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease |
| Q41787738 | Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease |
| Q92487825 | An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond |
| Q91437144 | 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 |
| Q84989744 | Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy |
| Q36730504 | Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease |
| Q37976637 | Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques |
| Q37012183 | Atypical immunologic response in a patient with CRIM-negative Pompe disease |
| Q37219555 | Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease |
| Q39175420 | Bent spine syndrome as the initial symptom of late-onset Pompe disease. |
| Q37097386 | Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease |
| Q48466555 | Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy. |
| Q35214499 | Burden of illness of Pompe disease in patients only receiving supportive care. |
| Q42183681 | CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy |
| Q38327807 | Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice |
| Q48587106 | Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series |
| Q37196681 | Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease |
| Q48156080 | Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy |
| Q38454536 | Cardiomyopathy in a dish: using human inducible pluripotent stem cells to model inherited cardiomyopathies |
| Q34628997 | Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy |
| Q92487836 | Challenges in treating Pompe disease: an industry perspective |
| Q64081839 | Characteristics of Pompe disease in China: a report from the Pompe registry |
| Q64058417 | Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy |
| Q39773493 | Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease |
| Q36911229 | Childhood Pompe disease: clinical spectrum and genotype in 31 patients |
| Q30489156 | Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease |
| Q39900456 | Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II. |
| Q42126616 | Clinical Analysis of Algerian Patients with Pompe Disease. |
| Q57798439 | Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center |
| Q37414501 | Clinical consequences of reduced dosing schedule during treatment of a patient with Pompe's disease |
| Q90066296 | Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand |
| Q51768443 | Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. |
| Q48040703 | Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy |
| Q42975249 | Combined general and epidural anesthesia for major abdominal surgery in a patient with Pompe disease |
| Q45071217 | Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice |
| Q98726975 | Cost-effectiveness analysis of enzyme replacement therapy (ERT) for treatment of infantile-onset Pompe disease (IOPD) in the Iranian pharmaceutical market |
| Q33684105 | Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease |
| Q37040458 | Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants |
| Q36503498 | Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing |
| Q40325048 | Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome |
| Q64240900 | Diagnostic methods for Lysosomal Storage Disease |
| Q34349099 | Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy |
| Q28595509 | Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses |
| Q38877509 | Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. |
| Q51874580 | Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results. |
| Q35087282 | Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease |
| 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. |
| Q36853458 | Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study |
| Q64063302 | Effects of immunomodulation in classic infantile Pompe patients with high antibody titers |
| Q53835851 | 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. |
| Q51807688 | Electrocardiographic response to enzyme replacement therapy for Pompe disease. |
| Q45873897 | Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation |
| Q43948150 | Enzyme replacement in neuronal storage disorders in the pediatric population |
| Q24187658 | Enzyme replacement therapy for infantile-onset Pompe disease |
| Q47385072 | Enzyme replacement therapy for infantile-onset Pompe disease. |
| Q94355648 | Enzyme replacement therapy for late‐onset Pompe disease |
| Q50847881 | Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. |
| Q64050938 | Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study |
| Q49386801 | Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation |
| Q35123163 | Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease |
| Q35871941 | Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy |
| Q36264496 | Familial Pompe Disease |
| Q33666033 | Fatigue in neuromuscular disorders: focus on Guillain-Barré syndrome and Pompe disease |
| Q37425960 | Fatigue: an important feature of late-onset Pompe disease |
| Q33778251 | Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle |
| Q36753439 | Fractures in children with Pompe disease: a potential long-term complication |
| Q37518707 | Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents |
| Q92163577 | GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry |
| Q38356012 | Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease |
| Q48004397 | Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology |
| Q36960361 | Glycogen storage disease type II: clinical overview |
| Q37930640 | Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment |
| Q30479184 | Hearing loss in Pompe disease revisited: results from a study of 24 children |
| Q85000719 | High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa |
| Q40158700 | High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient |
| Q92431110 | Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature |
| Q42817633 | Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification |
| Q36686820 | Hypertransaminasemia and fatal lung disease: a case report |
| Q35084926 | Hypoglossal neuropathology and respiratory activity in pompe mice |
| Q41856905 | Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease |
| Q35836295 | Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers |
| Q33711395 | Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent. |
| Q44603128 | Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient. |
| 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 |
| Q41171330 | Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy |
| 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 |
| Q88324216 | Incidence of infantile Pompe disease in the Maroon population of French Guiana |
| Q33579864 | Increased aortic stiffness and blood pressure in non-classic Pompe disease |
| Q48178945 | Infantile Pompe Disease and Enzyme Replacement Therapy. |
| 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 |
| Q39569687 | Infantile hypotonia with failure to thrive |
| Q36043419 | Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study |
| 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 |
| Q42051051 | Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity |
| Q37181416 | Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease |
| Q64244491 | Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease |
| Q79252232 | Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease |
| Q38245751 | Lentiviral hematopoietic stem cell gene therapy in inherited metabolic disorders |
| Q40317803 | Limitations of enzyme replacement therapy: current and future |
| 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. |
| Q52647391 | Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy. |
| Q61063601 | Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report |
| Q92487791 | Long-term outcome and unmet needs in infantile-onset Pompe disease |
| Q35595602 | Lung MRI and impairment of diaphragmatic function in Pompe disease |
| Q36771137 | Lysosomal Storage Diseases-Regulating Neurodegeneration |
| Q37031665 | Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting |
| Q30840208 | Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry |
| Q92487767 | Molecular genetics of Pompe disease: a comprehensive overview |
| Q34171682 | Molecular genetics of late onset glycogen storage disease II in Italy |
| Q44383917 | Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype |
| Q24300206 | Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II |
| Q33273194 | N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits |
| Q48011002 | Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. |
| Q48914593 | Neuromuscular disorders associated with cerebral malformations |
| Q39963807 | Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice |
| Q36646889 | New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy |
| Q34070106 | Newborn screening for pompe disease? a qualitative study exploring professional views |
| Q37434184 | Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease |
| Q45867211 | Oral administration of recombinant human acid α-glucosidase reduces specific antibody formation against enzyme in mouse |
| Q43631261 | Oropharyngeal dysphagia in infants and children with infantile Pompe disease. |
| Q35220683 | Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany |
| Q38114124 | Perioperative respiratory management of pediatric patients with neuromuscular disease. |
| Q37012289 | 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 |
| Q30558083 | Phenotypical variation within 22 families with Pompe disease |
| Q36479980 | Physical therapy management of Pompe disease |
| Q53086655 | Polysomnographic findings in infantile Pompe disease. |
| Q38800985 | Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel |
| Q34567528 | Pompe disease diagnosis and management guideline. |
| Q47404438 | Pompe disease in Austria: clinical, genetic and epidemiological aspects |
| Q48179948 | Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. |
| Q57639968 | Pompe disease: Design, methodology, and early findings from the Pompe Registry |
| Q84575770 | Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients |
| Q34054935 | Pompe disease: from pathophysiology to therapy and back again |
| Q35029971 | Pompe disease: literature review and case series |
| Q37302098 | Pompe's disease |
| Q58104540 | Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report |
| Q30317558 | Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences |
| Q45857382 | Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. |
| Q46933420 | Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study |
| Q35183088 | Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease |
| Q35956846 | Public support for neonatal screening for Pompe disease, a broad-phenotype condition |
| Q27027867 | Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders |
| Q79707389 | Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots |
| Q39446972 | Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe? |
| Q84564899 | Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease |
| Q40483409 | Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. |
| Q96292693 | Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase |
| Q38615407 | Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy |
| Q58085848 | Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II) |
| Q58591574 | Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease |
| Q45972852 | Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. |
| Q39616879 | Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. |
| Q36049311 | Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines |
| Q48681869 | Structural and functional cardiac analyses using modern and sensitive myocardial techniques in adult Pompe disease |
| Q37500689 | Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease. |
| Q37696025 | Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe 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 |
| Q60305864 | The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease |
| Q36590894 | The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE |
| Q90663985 | The Respiratory Phenotype of Pompe Disease Mouse Models |
| Q30573752 | The emerging phenotype of long-term survivors with infantile Pompe disease. |
| Q35773435 | The heart in Anderson-Fabry disease and other lysosomal storage disorders. |
| Q46086672 | The humanistic burden of Pompe disease: are there still unmet needs? A systematic review |
| Q64257403 | The impact of Pompe disease on smooth muscle: a review |
| Q34629805 | The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease |
| Q36245480 | The natural course of non-classic Pompe's disease; a review of 225 published cases |
| Q34345151 | The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease |
| Q39508157 | The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts |
| Q55709382 | The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. |
| 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 |
| Q38116744 | The respiratory neuromuscular system in Pompe disease |
| Q83350404 | The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease |
| Q62554837 | Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients |
| Q48324978 | Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience |
| Q37025890 | Treatment of lysosomal storage disorders : progress with enzyme replacement therapy |
| Q38919295 | Treatment strategies for acute metabolic disorders in neonates |
| Q37387776 | Two cases of Pompe's disease: case report and review of literature |
| Q45345322 | Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants |
| Q30472637 | Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy |
| Q93028566 | Vacuolar hydrolysis and efflux: current knowledge and unanswered questions |
| Q92487757 | Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease |
| Q80675925 | [Respiratory aspects of Pompe disease: case report] |
| Q63681548 | microRNAs as biomarkers in Pompe disease |
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