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Pompe disease
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Publications and studies (1195)
- Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease. (2018/01/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS. (2018/01/01) ♡
- Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses. (2018/01/01) ♡
- [Argentine consensus on late-onset Pompe's disease]. (2018/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Enzyme replacement therapies: what is the best option? (2018/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease. (2018/01/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The impact of Pompe disease on smooth muscle: a review. (2018/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction (2018-12-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease (2018-09-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of an Alpha-glucosidase Inhibitor to Block Cardiac Events in Patients With MI and IGT (2018-08-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) (2018-06-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease (2018-06-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension Study for Patients Who Have Participated in a BMN 701 Study (2018-05-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Pilot Study of Pyridostigmine in Pompe Disease (2018-05-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Repeated Eye Injections of Aflibercept for Treatment of Wet Age Related Macular Degeneration (2018-05-02) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease. (2017/12/20) ♡
- [A case of glycogen storage disease type II and related analysis]. (2017/12/20) ♡
- N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease. (2017/12/14) ♡
- Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease. (2017/12/13) ♡
- Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study. (2017/12/05) ♡
- Long-term oncological outcomes in patients with limited nodal disease undergoing radical prostatectomy and pelvic lymph node dissection without adjuvant treatment. (2017/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Palliative care in neuromuscular diseases. (2017/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States. (2017/12/01) ♡
- Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. (2017/12/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease. (2017/12/01) ♡
- A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Infantile Pompe Disease and Enzyme Replacement Therapy. (2017/12/01) ♡
- External Validation of Generic and Cancer-Specific Risk Stratification Tools in Patients With Pulmonary Embolism and Active Cancer. (2017/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Infantile-onset Pompe disease with neonatal debut: A case report and literature review. (2017/12/01) ♡
- Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry. (2017/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase. (2017/11/29) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. The humanistic burden of Pompe disease: are there still unmet needs? A systematic review. (2017/11/22) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Enzyme replacement therapy for infantile-onset Pompe disease. (2017/11/20) ♡
- Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. (2017/11/17) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease. (2017/11/08) ♡
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. (2017/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. PRKAG2 mutations presenting in infancy. (2017/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant. (2017/11/01) ♡
- Clinical characteristics and muscle glycogen concentrations in warmblood horses with polysaccharide storage myopathy. (2017/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease. (2017/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Abnormal tongue features as a clinical clue for late-onset Pompe's disease. (2017/11/01) ♡
- A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. (2017/10/31) ♡
- Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease. (2017/10/24) ♡
- A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells. (2017/10/18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy. (2017/10/05) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica. (2017/10/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Genetics of paediatric cardiomyopathies. (2017/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Treatment with enzyme replacement therapy during pregnancy in a patient with Pompe disease. (2017/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? (2017/10/01) ♡
- Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies. (2017/10/01) ♡
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