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Pompe disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (4)Treatment guideline (3)Systematic review (20)Phase 3 study (18)Randomized trial (10)Clinical trial (201)Review article (174)Early study (phase 1 or 2) (16)Case report (118)Laboratory or animal research (44)Commentary or editorial (34) Only studies currently recruiting participants (29)

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Publications and studies (1195)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases]. (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. Atg5(flox)-Derived Autophagy-Deficient Model of Pompe Disease: Does It Tell the Whole Story? (2017/09/22) ♡
• 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. Treatment Opportunities in Patients With Metabolic Myopathies. (2017/09/21) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. (13)C/(31)P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease. (2017/09/08) ♡
• Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology. (2017/09/06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease. (2017/09/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: A case report. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient. (2017/09/01) ♡
• Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease. (2017/09/01) ♡
• 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. Ultrastructural aspects of vacuolar degeneration of cardiomyocytes in human endomyocardial biopsies. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature. (2017/09/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. (2017/08/24) ♡
• [Proton-pump inhibitors and risk of kidney disease]. (2017/08/23) ♡
• Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. (2017/08/17) ♡
• Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients. (2017/08/16) ♡
• 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. Cardiac Manifestations in Children with Inborn Errors of Metabolism. (2017/08/15) ♡
• 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. Restrictive Arteriopathy in Late-Onset Pompe Disease: Case Report and Review of the Literature. (2017/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-onset Pompe disease in a 54 year-old sportsman with an episode of syncope: a case report. (2017/08/01) ♡
• 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 of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients. (2017/07/28) ♡
• Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology. (2017/07/25) ♡
• A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease. (2017/07/23) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease. (2017/07/18) ♡
• Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles. (2017/07/07) ♡
• Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil. (2017/07/04) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case 3: Chronic Muscle Pain in a 15-year-old Girl. (2017/07/01) ♡
• 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. Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement. (2017/07/01) ♡
• Newborn Screening for Pompe Disease. (2017/07/01) ♡
• The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease. (2017/07/01) ♡
• Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum. (2017/07/01) ♡
• The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening. (2017/07/01) ♡
• GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. (2017/06/16) ♡
• Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease. (2017/06/16) ♡
• CT-Based Local Distribution Metric Improves Characterization of COPD. (2017/06/07) ♡
• 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. Lysosomal storage diseases. (2017/05/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy. (2017/05/01) ♡
• Oral Health Status of Patients with Lysosomal Storage Diseases in Poland. (2017/03/09) ♡
• Modulation of mTOR signaling as a strategy for the treatment of Pompe disease. (2017/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [First cases of Pompe's disease in Kazakhstan]. (2017/01/01) ♡
• 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. [Characteristics of lipid metabolism and the cardiovascular system in glycogenosis types I and III]. (2017/01/01) ♡
• 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. Selective Spinal Fusion for Neuromuscular Scoliosis in a Patient with Pompe Disease: A Case Report and Review of the Literature. (2017/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies (2017-12-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Long-term Study for the Outcome of Pompe Disease (2017-07-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease (2017-05-16) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Investigating Lysosomal Storage Diseases in Minority Groups (2017-04-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Search for Serum/Plasma Biomarkers in Pompe's Disease (2017-03-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease (2016-10-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pregnancy and Birth Outcome in Women With Pompe Disease (2016-09-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease (2016-09-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth (2016-09-19) ♡

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